9-80880867-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80880867
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80880867
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 21700
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.439+408A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1800+408A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-666A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1797+408A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1845+45A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1848+45A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1797+408A>G
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9589
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

9-80881309-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881309
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881308
    reference: chr 9
allele count: 1
allele frequency: 9.057806923787613e-6
allele num: 110402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1798-48delT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1849-48delT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-223delT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.440-48delT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1846-48delT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1798-48delT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1801-48delT
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14900
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3807
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: AT
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

9-80881311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881311
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881311
    reference: chr 9
allele count: 1
allele frequency: 9.066018748526771e-6
allele num: 110302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.440-47G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1846-47G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1798-47G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1849-47G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1801-47G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-222G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1798-47G>A
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18235
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3994
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

9-80881316-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881316
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881316
    reference: chr 9
allele count: 1
allele frequency: 9.034239768723461e-6
allele num: 110690
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.440-42G>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-217G>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1798-42G>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1801-42G>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1846-42G>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1849-42G>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1798-42G>T
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20746
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

9-80881317-CTTTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881317
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881313
    reference: chr 9
allele count: 14
allele frequency: 1.265205053590471e-4
allele num: 110654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1846-35_1846-32delTTGT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1798-35_1798-32delTTGT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.440-35_440-32delTTGT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1798-35_1798-32delTTGT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1849-35_1849-32delTTGT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1801-35_1801-32delTTGT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-210_464-207delTTGT
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3023
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21276
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: CTTTG
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

9-80881320-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881320
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881320
    reference: chr 9
allele count: 1
allele frequency: 8.993938085730218e-6
allele num: 111186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1798-38T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-213T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1846-38T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1798-38T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1849-38T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.440-38T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1801-38T>A
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4757
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2980
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32386
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

9-80881330-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881330
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881330
    reference: chr 9
allele count: 1
allele frequency: 8.905353898763937e-6
allele num: 112292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1846-28T>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1798-28T>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1849-28T>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1801-28T>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.440-28T>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-203T>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1798-28T>G
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

9-80881335-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881335
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881335
    reference: chr 9
allele count: 1
allele frequency: 8.829710208910944e-6
allele num: 113254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1798-23T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1849-23T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1798-23T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.440-23T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1801-23T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1846-23T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-198T>A
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40525
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-80881354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881354
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881354
    reference: chr 9
allele count: 1
allele frequency: 8.519484060045324e-6
allele num: 117378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.440-4C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1798-4C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1798-4C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1801-4C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1846-4C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-179C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1849-4C>T
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46289
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1849-4C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum

9-80881357-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881357
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881357
    reference: chr 9
allele count: 208
allele frequency: 1.763937651588392e-3
allele num: 117918
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1849-1G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-176G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1798-1G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1846-1G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1801-1G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.440-1G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1798-1G>C
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 33807
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18662
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1849-1G>C
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD

9-80881389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881389
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881389
    reference: chr 9
allele count: 1
allele frequency: 8.317253310266817e-6
allele num: 120232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1832C>T
  hgvsp: ENSP00000399286.2:p.Pro611Leu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1877C>T
  hgvsp: ENSP00000365783.2:p.Pro626Leu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.471C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1829C>T
  hgvsp: ENSP00000277082.5:p.Pro610Leu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1829C>T
  hgvsp: ENSP00000411284.2:p.Pro610Leu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1880C>T
  hgvsp: ENSP00000365782.4:p.Pro627Leu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-144C>T
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro627Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP

9-80881400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881400
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881400
    reference: chr 9
allele count: 2
allele frequency: 1.660109235187675e-5
allele num: 120474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1888G>A
  hgvsp: ENSP00000365783.2:p.Asp630Asn
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1840G>A
  hgvsp: ENSP00000411284.2:p.Asp614Asn
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-133G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1891G>A
  hgvsp: ENSP00000365782.4:p.Asp631Asn
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.482G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1843G>A
  hgvsp: ENSP00000399286.2:p.Asp615Asn
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1840G>A
  hgvsp: ENSP00000277082.5:p.Asp614Asn
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp631Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

9-80881409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881409
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881409
    reference: chr 9
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-124C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.491C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1897C>T
  hgvsp: ENSP00000365783.2:p.Pro633Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1900C>T
  hgvsp: ENSP00000365782.4:p.Pro634Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1849C>T
  hgvsp: ENSP00000277082.5:p.Pro617Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1852C>T
  hgvsp: ENSP00000399286.2:p.Pro618Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1849C>T
  hgvsp: ENSP00000411284.2:p.Pro617Ser
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro634Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-80881426-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881426
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881427
    reference: chr 9
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-105dupC
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1871dupC
  hgvsp: ENSP00000399286.2:p.Glu625ArgfsTer16
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1868dupC
  hgvsp: ENSP00000277082.5:p.Glu624ArgfsTer16
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1868dupC
  hgvsp: ENSP00000411284.2:p.Glu624ArgfsTer16
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.510dupC
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1919dupC
  hgvsp: ENSP00000365782.4:p.Glu641ArgfsTer16
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1916dupC
  hgvsp: ENSP00000365783.2:p.Glu640ArgfsTer16
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu641ArgfsTer16
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

9-80881427-C-CGGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881427
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881430
    reference: chr 9
allele count: 6
allele frequency: 4.977518209420783e-5
allele num: 120542
alternate allele: CGGG
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1918_1919insGGG
  hgvsp: ENSP00000365782.4:p.Pro640delinsArgAla
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1867_1868insGGG
  hgvsp: ENSP00000411284.2:p.Pro623delinsArgAla
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1915_1916insGGG
  hgvsp: ENSP00000365783.2:p.Pro639delinsArgAla
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.509_510insGGG
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1870_1871insGGG
  hgvsp: ENSP00000399286.2:p.Pro624delinsArgAla
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-106_464-105insGGG
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1867_1868insGGG
  hgvsp: ENSP00000277082.5:p.Pro623delinsArgAla
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: protein altering
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro640delinsArgAla
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

9-80881433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881433
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881433
    reference: chr 9
allele count: 3
allele frequency: 2.489461280578883e-5
allele num: 120508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1876G>A
  hgvsp: ENSP00000399286.2:p.Gly626Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1873G>A
  hgvsp: ENSP00000277082.5:p.Gly625Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1873G>A
  hgvsp: ENSP00000411284.2:p.Gly625Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1921G>A
  hgvsp: ENSP00000365783.2:p.Gly641Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.515G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1924G>A
  hgvsp: ENSP00000365782.4:p.Gly642Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-100G>A
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly642Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

9-80881439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881439
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881439
    reference: chr 9
allele count: 1
allele frequency: 8.305096006909839e-6
allele num: 120408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.521G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1930G>A
  hgvsp: ENSP00000365782.4:p.Gly644Arg
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1927G>A
  hgvsp: ENSP00000365783.2:p.Gly643Arg
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1882G>A
  hgvsp: ENSP00000399286.2:p.Gly628Arg
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1879G>A
  hgvsp: ENSP00000277082.5:p.Gly627Arg
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-94G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1879G>A
  hgvsp: ENSP00000411284.2:p.Gly627Arg
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5893
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly644Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

9-80881447-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881447
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881447
    reference: chr 9
allele count: 1
allele frequency: 8.315316813570598e-6
allele num: 120260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1890C>G
  hgvsp: ENST00000415759.2:c.1890C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1887C>G
  hgvsp: ENST00000277082.5:c.1887C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1935C>G
  hgvsp: ENST00000376598.2:c.1935C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1887C>G
  hgvsp: ENST00000424347.2:c.1887C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1938C>G
  hgvsp: ENST00000376597.4:c.1938C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.529C>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-86C>G
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser646Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/9-80881455-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881455
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881455
    reference: chr 9
allele count: 2
allele frequency: 1.66497394315779e-5
allele num: 120122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.537A>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1943A>C
  hgvsp: ENSP00000365783.2:p.Asn648Thr
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1895A>C
  hgvsp: ENSP00000411284.2:p.Asn632Thr
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-78A>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1895A>C
  hgvsp: ENSP00000277082.5:p.Asn632Thr
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1898A>C
  hgvsp: ENSP00000399286.2:p.Asn633Thr
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1946A>C
  hgvsp: ENSP00000365782.4:p.Asn649Thr
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19791
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47875
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn649Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

9-80881455-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881455
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881455
    reference: chr 9
allele count: 1
allele frequency: 8.324869715788949e-6
allele num: 120122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1943A>T
  hgvsp: ENSP00000365783.2:p.Asn648Ile
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1895A>T
  hgvsp: ENSP00000277082.5:p.Asn632Ile
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1898A>T
  hgvsp: ENSP00000399286.2:p.Asn633Ile
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-78A>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1946A>T
  hgvsp: ENSP00000365782.4:p.Asn649Ile
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.537A>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1895A>T
  hgvsp: ENSP00000411284.2:p.Asn632Ile
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn649Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

9-80881462-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881462
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881462
    reference: chr 9
allele count: 2
allele frequency: 1.668168017882761e-5
allele num: 119892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1902A>G
  hgvsp: ENST00000424347.2:c.1902A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-71A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1950A>G
  hgvsp: ENST00000376598.2:c.1950A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1902A>G
  hgvsp: ENST00000277082.5:c.1902A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1953A>G
  hgvsp: ENST00000376597.4:c.1953A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1905A>G
  hgvsp: ENST00000415759.2:c.1905A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.544A>G
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly651Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

9-80881463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881463
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881463
    reference: chr 9
allele count: 1
allele frequency: 8.341396683460679e-6
allele num: 119884
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1954G>A
  hgvsp: ENSP00000365782.4:p.Val652Ile
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1906G>A
  hgvsp: ENSP00000399286.2:p.Val636Ile
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1951G>A
  hgvsp: ENSP00000365783.2:p.Val651Ile
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1903G>A
  hgvsp: ENSP00000411284.2:p.Val635Ile
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.545G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1903G>A
  hgvsp: ENSP00000277082.5:p.Val635Ile
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-70G>A
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val652Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

9-80881466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881466
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881466
    reference: chr 9
allele count: 1
allele frequency: 8.351846593281774e-6
allele num: 119734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1954C>T
  hgvsp: ENSP00000365783.2:p.Pro652Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1909C>T
  hgvsp: ENSP00000399286.2:p.Pro637Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1957C>T
  hgvsp: ENSP00000365782.4:p.Pro653Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1906C>T
  hgvsp: ENSP00000277082.5:p.Pro636Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1906C>T
  hgvsp: ENSP00000411284.2:p.Pro636Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-67C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.548C>T
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro653Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/9-80881470-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881470
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881470
    reference: chr 9
allele count: 1
allele frequency: 8.370442294170824e-6
allele num: 119468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-63C>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1913C>A
  hgvsp: ENSP00000399286.2:p.Ala638Asp
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1961C>A
  hgvsp: ENSP00000365782.4:p.Ala654Asp
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1910C>A
  hgvsp: ENSP00000277082.5:p.Ala637Asp
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.552C>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1910C>A
  hgvsp: ENSP00000411284.2:p.Ala637Asp
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1958C>A
  hgvsp: ENSP00000365783.2:p.Ala653Asp
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala654Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

9-80881478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881478
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881478
    reference: chr 9
allele count: 1
allele frequency: 8.429997302400863e-6
allele num: 118624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1918C>T
  hgvsp: ENSP00000411284.2:p.Gln640Ter
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1921C>T
  hgvsp: ENSP00000399286.2:p.Gln641Ter
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.560C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1966C>T
  hgvsp: ENSP00000365783.2:p.Gln656Ter
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1918C>T
  hgvsp: ENSP00000277082.5:p.Gln640Ter
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-55C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1969C>T
  hgvsp: ENSP00000365782.4:p.Gln657Ter
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln657Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

9-80881481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881481
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881481
    reference: chr 9
allele count: 1
allele frequency: 8.450799445627557e-6
allele num: 118332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1921C>T
  hgvsp: ENSP00000277082.5:p.Arg641Trp
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1969C>T
  hgvsp: ENSP00000365783.2:p.Arg657Trp
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1921C>T
  hgvsp: ENSP00000411284.2:p.Arg641Trp
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.563C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1924C>T
  hgvsp: ENSP00000399286.2:p.Arg642Trp
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1972C>T
  hgvsp: ENSP00000365782.4:p.Arg658Trp
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-52C>T
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg658Trp
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-80881482-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881482
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881482
    reference: chr 9
allele count: 1
allele frequency: 8.455515532782033e-6
allele num: 118266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1970G>A
  hgvsp: ENSP00000365783.2:p.Arg657Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.564G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1925G>A
  hgvsp: ENSP00000399286.2:p.Arg642Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1973G>A
  hgvsp: ENSP00000365782.4:p.Arg658Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-51G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1922G>A
  hgvsp: ENSP00000277082.5:p.Arg641Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1922G>A
  hgvsp: ENSP00000411284.2:p.Arg641Gln
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg658Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

9-80881486-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881486
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881486
    reference: chr 9
allele count: 2
allele frequency: 1.697360604260375e-5
allele num: 117830
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-47G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1926G>C
  hgvsp: ENSP00000277082.5:p.Gln642His
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1929G>C
  hgvsp: ENSP00000399286.2:p.Gln643His
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1977G>C
  hgvsp: ENSP00000365782.4:p.Gln659His
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1974G>C
  hgvsp: ENSP00000365783.2:p.Gln658His
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.568G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1926G>C
  hgvsp: ENSP00000411284.2:p.Gln642His
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19192
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln659His
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum

9-80881489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881489
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881489
    reference: chr 9
allele count: 1
allele frequency: 8.512232077495362e-6
allele num: 117478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-44G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1980G>A
  hgvsp: ENST00000376597.4:c.1980G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1932G>A
  hgvsp: ENST00000415759.2:c.1932G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.571G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1977G>A
  hgvsp: ENST00000376598.2:c.1977G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1929G>A
  hgvsp: ENST00000277082.5:c.1929G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1929G>A
  hgvsp: ENST00000424347.2:c.1929G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu660Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

9-80881494-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881494
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881494
    reference: chr 9
allele count: 1
allele frequency: 8.549493015064207e-6
allele num: 116966
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1937T>C
  hgvsp: ENSP00000399286.2:p.Phe646Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.576T>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1934T>C
  hgvsp: ENSP00000277082.5:p.Phe645Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1934T>C
  hgvsp: ENSP00000411284.2:p.Phe645Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1982T>C
  hgvsp: ENSP00000365783.2:p.Phe661Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1985T>C
  hgvsp: ENSP00000365782.4:p.Phe662Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-39T>C
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29595
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe662Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

9-80881501-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881501
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881501
    reference: chr 9
allele count: 1
allele frequency: 8.623663332183512e-6
allele num: 115960
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1941A>T
  hgvsp: ENST00000424347.2:c.1941A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1989A>T
  hgvsp: ENST00000376598.2:c.1989A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-32A>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1944A>T
  hgvsp: ENST00000415759.2:c.1944A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1941A>T
  hgvsp: ENST00000277082.5:c.1941A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.583A>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1992A>T
  hgvsp: ENST00000376597.4:c.1992A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly664Gly
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

9-80881506-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881506
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881506
    reference: chr 9
allele count: 1
allele frequency: 8.662058451570432e-6
allele num: 115446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1994T>G
  hgvsp: ENSP00000365783.2:p.Ile665Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.588T>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1946T>G
  hgvsp: ENSP00000277082.5:p.Ile649Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1949T>G
  hgvsp: ENSP00000399286.2:p.Ile650Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1946T>G
  hgvsp: ENSP00000411284.2:p.Ile649Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-27T>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.1997T>G
  hgvsp: ENSP00000365782.4:p.Ile666Ser
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile666Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

9-80881510-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881510
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881510
    reference: chr 9
allele count: 1
allele frequency: 8.708980700898767e-6
allele num: 114824
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1998T>C
  hgvsp: ENST00000376598.2:c.1998T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1950T>C
  hgvsp: ENST00000424347.2:c.1950T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.592T>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1950T>C
  hgvsp: ENST00000277082.5:c.1950T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2001T>C
  hgvsp: ENST00000376597.4:c.2001T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1953T>C
  hgvsp: ENST00000415759.2:c.1953T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-23T>C
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17213
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5376
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala667Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

9-80881511-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881511
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881511
    reference: chr 9
allele count: 10
allele frequency: 8.707464038173523e-5
allele num: 114844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.1999A>G
  hgvsp: ENSP00000365783.2:p.Arg667Gly
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1954A>G
  hgvsp: ENSP00000399286.2:p.Arg652Gly
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1951A>G
  hgvsp: ENSP00000277082.5:p.Arg651Gly
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1951A>G
  hgvsp: ENSP00000411284.2:p.Arg651Gly
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-22A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.593A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2002A>G
  hgvsp: ENSP00000365782.4:p.Arg668Gly
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17205
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27605
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg668Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

9-80881519-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881519
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881519
    reference: chr 9
allele count: 743
allele frequency: 6.538190777895107e-3
allele num: 113640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1959T>C
  hgvsp: ENST00000424347.2:c.1959T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2007T>C
  hgvsp: ENST00000376598.2:c.2007T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2010T>C
  hgvsp: ENST00000376597.4:c.2010T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1959T>C
  hgvsp: ENST00000277082.5:c.1959T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1962T>C
  hgvsp: ENST00000415759.2:c.1962T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-14T>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.601T>C
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 1.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 26138
  bin: 2.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 16275
  bin: 2.75e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 35857
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Cys670Cys
num of homozygotes: 21
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

9-80881520-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881520
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881517
    reference: chr 9
allele count: 1
allele frequency: 8.809796493700996e-6
allele num: 113510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1963_1965delCCT
  hgvsp: ENSP00000411284.2:p.Pro655del
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1963_1965delCCT
  hgvsp: ENSP00000277082.5:p.Pro655del
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.605_607delCCT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-10_464-8delCCT
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1966_1968delCCT
  hgvsp: ENSP00000399286.2:p.Pro656del
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2011_2013delCCT
  hgvsp: ENSP00000365783.2:p.Pro671del
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2014_2016delCCT
  hgvsp: ENSP00000365782.4:p.Pro672del
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro672del
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: TCTC
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-80881521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881521
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881521
    reference: chr 9
allele count: 1
allele frequency: 8.829242450997704e-6
allele num: 113260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1961C>T
  hgvsp: ENSP00000411284.2:p.Ser654Phe
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2009C>T
  hgvsp: ENSP00000365783.2:p.Ser670Phe
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.603C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2012C>T
  hgvsp: ENSP00000365782.4:p.Ser671Phe
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1964C>T
  hgvsp: ENSP00000399286.2:p.Ser655Phe
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-12C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1961C>T
  hgvsp: ENSP00000277082.5:p.Ser654Phe
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser671Phe
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

9-80881524-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881524
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881524
    reference: chr 9
allele count: 5
allele frequency: 4.432859903895597e-5
allele num: 112794
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2015C>T
  hgvsp: ENSP00000365782.4:p.Pro672Leu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1967C>T
  hgvsp: ENSP00000399286.2:p.Pro656Leu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1964C>T
  hgvsp: ENSP00000277082.5:p.Pro655Leu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1964C>T
  hgvsp: ENSP00000411284.2:p.Pro655Leu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.464-9C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.606C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2012C>T
  hgvsp: ENSP00000365783.2:p.Pro671Leu
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15965
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25348
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro672Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

9-80881535-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881535
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881535
    reference: chr 9
allele count: 23
allele frequency: 2.081560989736999e-4
allele num: 110494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1978G>C
  hgvsp: ENSP00000399286.2:p.Ala660Pro
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2023G>C
  hgvsp: ENSP00000365783.2:p.Ala675Pro
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2026G>C
  hgvsp: ENSP00000365782.4:p.Ala676Pro
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1975G>C
  hgvsp: ENSP00000277082.5:p.Ala659Pro
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.466G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.617G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1975G>C
  hgvsp: ENSP00000411284.2:p.Ala659Pro
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13858
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23110
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7963
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6145
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Ala676Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

9-80881536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881536
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881536
    reference: chr 9
allele count: 4
allele frequency: 3.63934127922846e-5
allele num: 109910
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2027C>T
  hgvsp: ENSP00000365782.4:p.Ala676Val
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1979C>T
  hgvsp: ENSP00000399286.2:p.Ala660Val
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.618C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1976C>T
  hgvsp: ENSP00000277082.5:p.Ala659Val
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.467C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2024C>T
  hgvsp: ENSP00000365783.2:p.Ala675Val
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1976C>T
  hgvsp: ENSP00000411284.2:p.Ala659Val
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala676Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

9-80881543-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881543
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881543
    reference: chr 9
allele count: 1
allele frequency: 9.168592071001577e-6
allele num: 109068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1983T>C
  hgvsp: ENST00000277082.5:c.1983T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2031T>C
  hgvsp: ENST00000376598.2:c.2031T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.625T>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.474T>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1983T>C
  hgvsp: ENST00000424347.2:c.1983T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1986T>C
  hgvsp: ENST00000415759.2:c.1986T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2034T>C
  hgvsp: ENST00000376597.4:c.2034T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser678Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

9-80881544-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881544
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881544
    reference: chr 9
allele count: 1
allele frequency: 9.185773074661964e-6
allele num: 108864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1984G>C
  hgvsp: ENSP00000277082.5:p.Gly662Arg
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1987G>C
  hgvsp: ENSP00000399286.2:p.Gly663Arg
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2035G>C
  hgvsp: ENSP00000365782.4:p.Gly679Arg
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1984G>C
  hgvsp: ENSP00000411284.2:p.Gly662Arg
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2032G>C
  hgvsp: ENSP00000365783.2:p.Gly678Arg
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.626G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.475G>C
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly679Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

9-80881547-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881547
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881547
    reference: chr 9
allele count: 1
allele frequency: 9.221179204396658e-6
allele num: 108446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1987A>G
  hgvsp: ENSP00000411284.2:p.Thr663Ala
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1990A>G
  hgvsp: ENSP00000399286.2:p.Thr664Ala
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.629A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2035A>G
  hgvsp: ENSP00000365783.2:p.Thr679Ala
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1987A>G
  hgvsp: ENSP00000277082.5:p.Thr663Ala
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2038A>G
  hgvsp: ENSP00000365782.4:p.Thr680Ala
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.478A>G
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9059
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10337
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr680Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum

9-80881551-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881551
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881551
    reference: chr 9
allele count: 4
allele frequency: 3.720238095238096e-5
allele num: 107520
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1991G>C
  hgvsp: ENSP00000277082.5:p.Gly664Ala
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2039G>C
  hgvsp: ENSP00000365783.2:p.Gly680Ala
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.1994G>C
  hgvsp: ENSP00000399286.2:p.Gly665Ala
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.482G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1991G>C
  hgvsp: ENSP00000411284.2:p.Gly664Ala
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.633G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2042G>C
  hgvsp: ENSP00000365782.4:p.Gly681Ala
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly681Ala
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

9-80881557-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881557
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881557
    reference: chr 9
allele count: 1
allele frequency: 9.37013924026911e-6
allele num: 106722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2045A>G
  hgvsp: ENSP00000365783.2:p.Gln682Arg
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.639A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.1997A>G
  hgvsp: ENSP00000411284.2:p.Gln666Arg
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2000A>G
  hgvsp: ENSP00000399286.2:p.Gln667Arg
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2048A>G
  hgvsp: ENSP00000365782.4:p.Gln683Arg
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.488A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.1997A>G
  hgvsp: ENSP00000277082.5:p.Gln666Arg
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln683Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

9-80881560-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881560
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881560
    reference: chr 9
allele count: 1
allele frequency: 9.432360542549379e-6
allele num: 106018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2000G>T
  hgvsp: ENSP00000277082.5:p.Arg667Ile
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2051G>T
  hgvsp: ENSP00000365782.4:p.Arg684Ile
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2048G>T
  hgvsp: ENSP00000365783.2:p.Arg683Ile
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.491G>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2003G>T
  hgvsp: ENSP00000399286.2:p.Arg668Ile
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.642G>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2000G>T
  hgvsp: ENSP00000411284.2:p.Arg667Ile
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg684Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-80881562-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881562
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881562
    reference: chr 9
allele count: 1
allele frequency: 9.434852344560808e-6
allele num: 105990
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2002A>C
  hgvsp: ENSP00000277082.5:p.Lys668Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2002A>C
  hgvsp: ENSP00000411284.2:p.Lys668Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.644A>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2053A>C
  hgvsp: ENSP00000365782.4:p.Lys685Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2005A>C
  hgvsp: ENSP00000399286.2:p.Lys669Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2050A>C
  hgvsp: ENSP00000365783.2:p.Lys684Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.493A>C
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21479
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys685Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

9-80881565-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881565
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881565
    reference: chr 9
allele count: 1
allele frequency: 9.48640598023033e-6
allele num: 105414
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2056G>C
  hgvsp: ENSP00000365782.4:p.Glu686Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.647G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2053G>C
  hgvsp: ENSP00000365783.2:p.Glu685Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2008G>C
  hgvsp: ENSP00000399286.2:p.Glu670Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2005G>C
  hgvsp: ENSP00000411284.2:p.Glu669Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.496G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2005G>C
  hgvsp: ENSP00000277082.5:p.Glu669Gln
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21578
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9882
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu686Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-80881568-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881568
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881568
    reference: chr 9
allele count: 1
allele frequency: 9.514747859181732e-6
allele num: 105100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.650G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2008G>A
  hgvsp: ENSP00000277082.5:p.Glu670Lys
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.499G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2008G>A
  hgvsp: ENSP00000411284.2:p.Glu670Lys
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2059G>A
  hgvsp: ENSP00000365782.4:p.Glu687Lys
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2011G>A
  hgvsp: ENSP00000399286.2:p.Glu671Lys
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2056G>A
  hgvsp: ENSP00000365783.2:p.Glu686Lys
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9670
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu687Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

9-80881569-A-AGGAGTTGTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881569
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881578
    reference: chr 9
allele count: 1
allele frequency: 9.502632229127468e-6
allele num: 105234
alternate allele: AGGAGTTGTC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.652_660dupGGAGTTGTC
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.501_509dupGGAGTTGTC
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsp: ENSP00000365782.4:p.Glu688_Ser690dup
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsp: ENSP00000277082.5:p.Glu671_Ser673dup
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsp: ENSP00000399286.2:p.Glu672_Ser674dup
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsp: ENSP00000365783.2:p.Glu687_Ser689dup
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsp: ENSP00000411284.2:p.Glu671_Ser673dup
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7909
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21625
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu688_Ser690dup
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

9-80881574-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881574
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881574
    reference: chr 9
allele count: 1
allele frequency: 9.563520905856701e-6
allele num: 104564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2017T>A
  hgvsp: ENSP00000399286.2:p.Leu673Met
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.505T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2065T>A
  hgvsp: ENSP00000365782.4:p.Leu689Met
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2014T>A
  hgvsp: ENSP00000411284.2:p.Leu672Met
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.656T>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2014T>A
  hgvsp: ENSP00000277082.5:p.Leu672Met
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2062T>A
  hgvsp: ENSP00000365783.2:p.Leu688Met
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu689Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

9-80881575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881575
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881575
    reference: chr 9
allele count: 1
allele frequency: 9.583868432654157e-6
allele num: 104342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2015T>C
  hgvsp: ENSP00000277082.5:p.Leu672Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.657T>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2063T>C
  hgvsp: ENSP00000365783.2:p.Leu688Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2018T>C
  hgvsp: ENSP00000399286.2:p.Leu673Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2015T>C
  hgvsp: ENSP00000411284.2:p.Leu672Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.506T>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2066T>C
  hgvsp: ENSP00000365782.4:p.Leu689Ser
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu689Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

9-80881576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881576
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881576
    reference: chr 9
allele count: 16
allele frequency: 1.533889368229316e-4
allele num: 104310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2016G>A
  hgvsp: ENST00000424347.2:c.2016G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2067G>A
  hgvsp: ENST00000376597.4:c.2067G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2064G>A
  hgvsp: ENST00000376598.2:c.2064G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2019G>A
  hgvsp: ENST00000415759.2:c.2019G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2016G>A
  hgvsp: ENST00000277082.5:c.2016G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.658G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.507G>A
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9169
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10105
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7669
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21915
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu689Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/9-80881589-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881589
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881589
    reference: chr 9
allele count: 87
allele frequency: 8.451032580187671e-4
allele num: 102946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2029A>C
  hgvsp: ENST00000277082.5:c.2029A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2032A>C
  hgvsp: ENST00000415759.2:c.2032A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.671A>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2077A>C
  hgvsp: ENST00000376598.2:c.2077A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2029A>C
  hgvsp: ENST00000424347.2:c.2029A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.520A>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2080A>C
  hgvsp: ENST00000376597.4:c.2080A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22767
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8438
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8628
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10179
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 9.75e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg694Arg
num of homozygotes: 1
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/9-80881607-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881607
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881607
    reference: chr 9
allele count: 1
allele frequency: 9.895503483217226e-6
allele num: 101056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.538A>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2047A>C
  hgvsp: ENSP00000411284.2:p.Lys683Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2050A>C
  hgvsp: ENSP00000399286.2:p.Lys684Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2047A>C
  hgvsp: ENSP00000277082.5:p.Lys683Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2098A>C
  hgvsp: ENSP00000365782.4:p.Lys700Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2095A>C
  hgvsp: ENSP00000365783.2:p.Lys699Gln
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.689A>C
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10111
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14866
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys700Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

9-80881613-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881613
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881613
    reference: chr 9
allele count: 1
allele frequency: 9.992605471950756e-6
allele num: 100074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.695A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.544A>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2053A>G
  hgvsp: ENSP00000277082.5:p.Lys685Glu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2104A>G
  hgvsp: ENSP00000365782.4:p.Lys702Glu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2053A>G
  hgvsp: ENSP00000411284.2:p.Lys685Glu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2056A>G
  hgvsp: ENSP00000399286.2:p.Lys686Glu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2101A>G
  hgvsp: ENSP00000365783.2:p.Lys701Glu
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15312
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys702Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

9-80881629-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881629
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881629
    reference: chr 9
allele count: 2
allele frequency: 2.041232904674423e-5
allele num: 97980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+10C>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2069C>G
  hgvsp: ENSP00000277082.5:p.Thr690Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2120C>G
  hgvsp: ENSP00000365782.4:p.Thr707Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2072C>G
  hgvsp: ENSP00000399286.2:p.Thr691Ser
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.560C>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+10C>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+10C>G
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10235
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr707Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

9-80881643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881643
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881643
    reference: chr 9
allele count: 1
allele frequency: 1.04991285723285e-5
allele num: 95246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2086G>A
  hgvsp: ENSP00000399286.2:p.Asp696Asn
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2134G>A
  hgvsp: ENSP00000365782.4:p.Asp712Asn
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.574G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+24G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2083G>A
  hgvsp: ENSP00000277082.5:p.Asp695Asn
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+24G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+24G>A
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp712Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

9-80881648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881648
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881648
    reference: chr 9
allele count: 2
allele frequency: 2.13999871600077e-5
allele num: 93458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+29G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+29G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2139G>A
  hgvsp: ENST00000376597.4:c.2139G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2091G>A
  hgvsp: ENST00000415759.2:c.2091G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.579G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+29G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2088G>A
  hgvsp: ENST00000277082.5:c.2088G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12170
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys713Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

9-80881648-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881648
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881648
    reference: chr 9
allele count: 1
allele frequency: 1.069999358000385e-5
allele num: 93458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+29G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.579G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+29G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2088G>C
  hgvsp: ENSP00000277082.5:p.Lys696Asn
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+29G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2091G>C
  hgvsp: ENSP00000399286.2:p.Lys697Asn
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2139G>C
  hgvsp: ENSP00000365782.4:p.Lys713Asn
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys713Asn
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

9-80881650-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881650
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881650
    reference: chr 9
allele count: 1
allele frequency: 1.079330814894765e-5
allele num: 92650
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2093A>T
  hgvsp: ENSP00000399286.2:p.Gln698Leu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+31A>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2141A>T
  hgvsp: ENSP00000365782.4:p.Gln714Leu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+31A>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2090A>T
  hgvsp: ENSP00000277082.5:p.Gln697Leu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+31A>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.581A>T
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln714Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-80881652-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881652
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881652
    reference: chr 9
allele count: 1
allele frequency: 1.081759373444971e-5
allele num: 92442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+33C>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2095C>A
  hgvsp: ENSP00000399286.2:p.His699Asn
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+33C>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.583C>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2143C>A
  hgvsp: ENSP00000365782.4:p.His715Asn
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2092C>A
  hgvsp: ENSP00000277082.5:p.His698Asn
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+33C>A
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His715Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

9-80881656-CTGGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881656
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881652
    reference: chr 9
allele count: 1
allele frequency: 1.104240282685512e-5
allele num: 90560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.588_591delTGGA
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+38_701+41delTGGA
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+38_2107+41delTGGA
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2097_2100delTGGA
  hgvsp: ENSP00000277082.5:p.Gly700ArgfsTer34
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+38_2059+41delTGGA
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2148_2151delTGGA
  hgvsp: ENSP00000365782.4:p.Gly717ArgfsTer34
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2100_2103delTGGA
  hgvsp: ENSP00000399286.2:p.Gly701ArgfsTer34
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13660
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3026
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly717ArgfsTer34
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: CTGGA
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-80881659-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881659
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881659
    reference: chr 9
allele count: 53
allele frequency: 5.930136281245105e-4
allele num: 89374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.590G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+40G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2102G>A
  hgvsp: ENSP00000399286.2:p.Gly701Glu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2099G>A
  hgvsp: ENSP00000277082.5:p.Gly700Glu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2150G>A
  hgvsp: ENSP00000365782.4:p.Gly717Glu
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+40G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+40G>A
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17482
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14603
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14462
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly717Glu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

9-80881663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881663
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881663
    reference: chr 9
allele count: 2
allele frequency: 2.262699400384659e-5
allele num: 88390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2103G>A
  hgvsp: ENST00000277082.5:c.2103G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2154G>A
  hgvsp: ENST00000376597.4:c.2154G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+44G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2106G>A
  hgvsp: ENST00000415759.2:c.2106G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+44G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+44G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.594G>A
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15051
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19752
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys718Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

9-80881677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881677
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881677
    reference: chr 9
allele count: 2
allele frequency: 2.439202868502573e-5
allele num: 81994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.2120G>A
  hgvsp: ENST00000415759.2:c.2120G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: stop_retained_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.2168G>A
  hgvsp: ENST00000376597.4:c.2168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.2117G>A
  hgvsp: ENST00000277082.5:c.2117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+58G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.608G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+58G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+58G>A
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19339
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ter723Ter
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

9-80881686-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881686
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881686
    reference: chr 9
allele count: 1
allele frequency: 1.277498147627686e-5
allele num: 78278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+67G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.*8G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.*8G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+67G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.*8G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+67G>C
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.617G>C
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4668
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30733
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2707
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3835
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

9-80881691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881691
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881691
    reference: chr 9
allele count: 1
allele frequency: 1.351533991079876e-5
allele num: 73990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.622G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.*13G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+72G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.*13G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.*13G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+72G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+72G>A
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18882
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

9-80881694-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881694
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881694
    reference: chr 9
allele count: 1
allele frequency: 1.343652585187574e-5
allele num: 74424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.*16A>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.625A>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+75A>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.*16A>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.*16A>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+75A>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+75A>T
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23170
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31425
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

9-80881696-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881696
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881696
    reference: chr 9
allele count: 1
allele frequency: 1.364628820960699e-5
allele num: 73280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+77C>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+77C>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+77C>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.*18C>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.*18C>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.627C>G
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.*18C>G
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4530
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4571
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

9-80881696-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881696
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881696
    reference: chr 9
allele count: 1
allele frequency: 1.364628820960699e-5
allele num: 73280
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.*18C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.*18C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+77C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.*18C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+77C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+77C>T
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000476652
  gene symbol: CEP78
  hgvsc: ENST00000476652.2:n.627C>T
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4571
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

9-80881704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80881704
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 80881704
    reference: chr 9
allele count: 1
allele frequency: 1.490135304285629e-5
allele num: 67108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000277082
  ensembl transcript: ENST00000277082
  gene symbol: CEP78
  hgvsc: ENST00000277082.5:c.*26G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365782
  ensembl transcript: ENST00000376597
  gene symbol: CEP78
  hgvsc: ENST00000376597.4:c.*26G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000411284
  ensembl transcript: ENST00000424347
  gene symbol: CEP78
  hgvsc: ENST00000424347.2:c.2059+85G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000365783
  ensembl transcript: ENST00000376598
  gene symbol: CEP78
  hgvsc: ENST00000376598.2:c.2107+85G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000148019
  ensembl protein: ENSP00000399286
  ensembl transcript: ENST00000415759
  gene symbol: CEP78
  hgvsc: ENST00000415759.2:c.*26G>A
  variant of: http://identifiers.org/hgnc/25740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000148019
  ensembl transcript: ENST00000447629
  gene symbol: CEP78
  hgvsc: ENST00000447629.2:n.701+85G>A
  variant of: http://identifiers.org/hgnc/25740
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 357
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15963
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1466
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.87e-2

FS
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.624e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 4.88401e5

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8808
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.608078988839932e-5
allele num: 62186
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.365e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

VQSLOD
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SIO_000300: 4.7e0

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.283213e6

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11050
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.608751608751609e-5
allele num: 62160
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8804
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.97e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.287676e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604518323599255e-5
allele num: 62324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11090
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13058
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.094e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.497e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.741e0

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

DP
type: SiteQuality
SIO_000300: 1.303745e6

GenotypeQuality
all individuals: 3291
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
all individuals: 2883
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.256826901376664e-4
allele num: 8862
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 9.219422249539029e-4
allele num: 13016
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62312
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.159000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQ
type: SiteQuality
SIO_000300: 5.566e1

DP
type: SiteQuality
SIO_000300: 1.308651e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
all individuals: 1368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1175
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8878
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.578053955744165e-5
allele num: 13196
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62578
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.16e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.322527e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.224589762429586e-4
allele num: 8166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

South 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: 11174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63010
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.380036e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.419e0

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.366e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8250
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Other
type: Population
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allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.576292559899117e-5
allele num: 63440
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13948
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.69e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.401873e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 31
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535815210713847e-5
allele num: 65112
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.245e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.85e-1

BaseQRankSum
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SIO_000300: -2.891e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

DP
type: SiteQuality
SIO_000300: 1.467865e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.02e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 543
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variant carriers: 0

South Asian
type: Population
allele count: 43
allele frequency: 2.700665745509358e-3
allele num: 15922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.52114390021296e-4
allele num: 6574
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.293577981651376e-3
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
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African
type: Population
allele count: 4
allele frequency: 4.263483265828181e-4
allele num: 9382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 155
allele frequency: 2.373660030627871e-3
allele num: 65300
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.627430373095113e-4
allele num: 11418
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

DP
type: SiteQuality
SIO_000300: 1.47896e6

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

FS
type: SiteQuality
SIO_000300: 2.325e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.289e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1240
bin: 7.75e1
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GenotypeQuality
all individuals: 289
bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.479e0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.319e1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 2.151e0

DP
type: SiteQuality
SIO_000300: 1.50337e6

GenotypeQuality
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variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026904908605463e-4
allele num: 9738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

DP
type: SiteQuality
SIO_000300: 1.506421e6

FS
type: SiteQuality
SIO_000300: 1.354e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.166e0

MQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 5.24e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: -2.315e0

DP
type: SiteQuality
SIO_000300: 1.507329e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.139e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

QD
type: SiteQuality
SIO_000300: 1.476e1

FS
type: SiteQuality
SIO_000300: 2.272e0

MQ
type: SiteQuality
SIO_000300: 5.992e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.11e-1

DP
type: SiteQuality
SIO_000300: 1.507012e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

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: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.327505625757314e-4
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

QD
type: SiteQuality
SIO_000300: 1.702e1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

FS
type: SiteQuality
SIO_000300: 3.273e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQ
type: SiteQuality
SIO_000300: 5.612e1

DP
type: SiteQuality
SIO_000300: 1.507334e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.013e0

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002822653294096e-5
allele num: 66604
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
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South Asian
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Other
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.938e0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.583e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.503865e6

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

African
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allele frequency: 2.064835845550279e-4
allele num: 9686
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European (Finnish)
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allele num: 6604
num of homozygotes: 0

Other
type: Population
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BaseQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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MQ
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MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.72e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.468e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

FS
type: SiteQuality
SIO_000300: 4.123e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

DP
type: SiteQuality
SIO_000300: 1.501493e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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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

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014954172696575e-5
allele num: 66336
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.13e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.277e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

MQ
type: SiteQuality
SIO_000300: 5.894e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

DP
type: SiteQuality
SIO_000300: 1.497831e6

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 1481
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.038205980066445e-4
allele num: 9632
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.33e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e0

DP
type: SiteQuality
SIO_000300: 1.498067e6

VQSLOD
type: SiteQuality
SIO_000300: 7.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.197e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

DP
type: SiteQuality
SIO_000300: 1.496228e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66114
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.100536847242558e-5
allele num: 16392
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: 11396
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.492304e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.797e0

FS
type: SiteQuality
SIO_000300: 7.989e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523322060750084e-5
allele num: 65646
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.98e-1

DP
type: SiteQuality
SIO_000300: 1.477945e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.33e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 3.471e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.27e0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.057305984351871e-4
allele num: 9458
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65498
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

DP
type: SiteQuality
SIO_000300: 1.472141e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0884e1

VQSLOD
type: SiteQuality
SIO_000300: -9.577e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.13e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.527743827914935e-5
allele num: 65456
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9450
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: 1.471418e6

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.395783421178726e-4
allele num: 8348
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65200
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VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
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QD
type: SiteQuality
SIO_000300: 1.262e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538319539734794e-5
allele num: 65006
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.67e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.171e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 1.45218e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3416
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1577
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 4.75e1
variant carriers: 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: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.067463706233988e-4
allele num: 9368
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.243e1

MQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.69e-1

DP
type: SiteQuality
SIO_000300: 1.443242e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1576
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.220703125e-4
allele num: 8192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

VQSLOD
type: SiteQuality
SIO_000300: -6.929e-1

QD
type: SiteQuality
SIO_000300: 7.21e0

DP
type: SiteQuality
SIO_000300: 1.419266e6

GenotypeQuality
all individuals: 1152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39409
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4820
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4897
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15934
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.228199459592238e-4
allele num: 8142
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 1.407934e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.94e-1

MQ
type: SiteQuality
SIO_000300: 5.832e1

VQSLOD
type: SiteQuality
SIO_000300: -2.913e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e0

QD
type: SiteQuality
SIO_000300: 1.024e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

GenotypeQuality
all individuals: 1209
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37965
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15862
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574555188159345e-5
allele num: 63510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10794
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.509e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

DP
type: SiteQuality
SIO_000300: 1.392056e6

GenotypeQuality
all individuals: 4654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38560
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5391
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 452
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10800
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63518
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.085304970696766e-3
allele num: 9214
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.391914e6

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

QD
type: SiteQuality
SIO_000300: 1.858e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.917e1

FS
type: SiteQuality
SIO_000300: 1.986e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

GenotypeQuality
all individuals: 846
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 676
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6482
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2195
bin: 9.75e1
variant carriers: 712

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 255
bin: 9.25e1
variant carriers: 2

Latino
type: Population
allele count: 37
allele frequency: 3.487276154571159e-3
allele num: 10610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.546229988223686e-4
allele num: 62838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

African
type: Population
allele count: 684
allele frequency: 7.485226526592252e-2
allele num: 9138
num of homozygotes: 21

South Asian
type: Population
allele count: 2
allele frequency: 1.271132579128003e-4
allele num: 15734
num of homozygotes: 0

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

Other
type: Population
allele count: 4
allele frequency: 4.705882352941176e-3
allele num: 850
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

QD
type: SiteQuality
SIO_000300: 1.573e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

DP
type: SiteQuality
SIO_000300: 1.378364e6

GenotypeQuality
all individuals: 921
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6676
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1550
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592204566442697e-5
allele num: 62806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.056e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.356e0

DP
type: SiteQuality
SIO_000300: 1.357855e6

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 4.393e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.573e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

GenotypeQuality
all individuals: 717
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2016
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1748
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4332
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35656
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.253761283851555e-4
allele num: 7976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15706
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e0

VQSLOD
type: SiteQuality
SIO_000300: -1.629e0

FS
type: SiteQuality
SIO_000300: 5.493e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

DP
type: SiteQuality
SIO_000300: 1.355466e6

MQRankSum
type: SiteQuality
SIO_000300: 6.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.85e-1

MQ
type: SiteQuality
SIO_000300: 5.773e1

GenotypeQuality
all individuals: 517
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35273
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 7218
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.290890790135883e-4
allele num: 7948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15636
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.302e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.34445e6

QD
type: SiteQuality
SIO_000300: 1.233e1

GenotypeQuality
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2466
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8920
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

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

Other
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num of homozygotes: 0

East Asian
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allele frequency: 2.953261427837699e-3
allele num: 7788
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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QD
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ClippingRankSum
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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SIO_000300: -5.95e-1

ReadPosRankSum
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SIO_000300: 1.54e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 15202
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10038
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.289989680082559e-4
allele num: 7752
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.926755567233791e-5
allele num: 60892
num of homozygotes: 0

InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
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DP
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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SIO_000300: 2.35e-1

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

South Asian
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allele frequency: 6.626027034190299e-5
allele num: 15092
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East Asian
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allele frequency: 0.0e0
allele num: 7696
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.57e-1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.658649859014762e-5
allele num: 60290
num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.313e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.55e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

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

African
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allele frequency: 0.0e0
allele num: 8728
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60058
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 6.668444918644971e-5
allele num: 14996
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Other
type: Population
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allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.241065e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.514e0

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

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

East Asian
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allele frequency: 5.275652862041678e-4
allele num: 7582
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59558
num of homozygotes: 0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQ
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.689931388785615e-5
allele num: 59174
num of homozygotes: 0

MQRankSum
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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East Asian
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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MQRankSum
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MQ
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DP
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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South Asian
type: Population
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 8500
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European (Non-Finnish)
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allele frequency: 1.709869365980439e-5
allele num: 58484
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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FS
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MQRankSum
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MQ
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DP
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 58328
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 6.893699158968702e-5
allele num: 14506
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 784
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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MQ
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FS
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QD
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ClippingRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.712094233666621e-5
allele num: 58408
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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MQ
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QD
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MQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.190455e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7366
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 772
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South Asian
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allele count: 1
allele frequency: 6.939625260235948e-5
allele num: 14410
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58058
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e0

FS
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VQSLOD
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InbreedingCoeff
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DP
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SIO_000300: 1.184147e6

MQ
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.517e0

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.843e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6144
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14374
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9350
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.725804224768742e-5
allele num: 57944
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.171e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.876e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.181357e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 16

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57912
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 2.177463255307567e-3
allele num: 7348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Latino
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allele count: 16
allele frequency: 1.74140182847192e-3
allele num: 9188
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.223177465576291e-4
allele num: 57228
num of homozygotes: 0

African
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allele count: 63
allele frequency: 7.573936042317865e-3
allele num: 8318
num of homozygotes: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 1
allele frequency: 1.322751322751323e-3
allele num: 756
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FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5978
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.778852995588445e-5
allele num: 56216
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East Asian
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FS
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 7.316359379572725e-5
allele num: 13668
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
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Other
type: Population
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African
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East Asian
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 2
allele frequency: 2.516356316054353e-4
allele num: 7948
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54582
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele num: 722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.12e-1

MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7770
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.879487275871142e-5
allele num: 53206
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12724
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.504e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
SIO_000300: 1.117368e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.33e-1

QD
type: SiteQuality
SIO_000300: 1.013e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7686
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6736
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.824969400244798e-5
allele num: 52288
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12354
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.297e0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.138999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.567e0

QD
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SIO_000300: 6.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.367e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.090333e6

GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12354
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52288
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.301066874837367e-4
allele num: 7686
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6736
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.090333e6

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
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SIO_000300: 6.88e0

FS
type: SiteQuality
SIO_000300: 8.138999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.567e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.297e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.367e0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 8.229098090849243e-5
allele num: 12152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51916
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.021e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.44e-1

DP
type: SiteQuality
SIO_000300: 1.075957e6

VQSLOD
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.248e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2429
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GenotypeQuality
all individuals: 1196
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.92975685063682e-5
allele num: 51820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5562
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.211e0

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.153e0

QD
type: SiteQuality
SIO_000300: 6.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.076638e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.966104360819472e-5
allele num: 50862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

QD
type: SiteQuality
SIO_000300: 3.236e1

DP
type: SiteQuality
SIO_000300: 1.051898e6

MQ
type: SiteQuality
SIO_000300: 5.836e1

FS
type: SiteQuality
SIO_000300: 1.263e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.345e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 51

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.042037186742118e-4
allele num: 7422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5458
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
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European (Non-Finnish)
type: Population
allele count: 49
allele frequency: 9.752408247750976e-4
allele num: 50244
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.325e0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

QD
type: SiteQuality
SIO_000300: 1.201e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

DP
type: SiteQuality
SIO_000300: 1.032942e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.358326541700625e-4
allele num: 7362
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.011910510220505e-5
allele num: 49704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5422
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.649e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

QD
type: SiteQuality
SIO_000300: 1.432e1

DP
type: SiteQuality
SIO_000300: 1.015557e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

Latino
type: Population
allele count: 0
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East Asian
type: Population
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African
type: Population
allele count: 0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46304
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.986491855383393e-4
allele num: 10068
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.037e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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MQRankSum
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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.254689754689755e-5
allele num: 44352
num of homozygotes: 0

Latino
type: Population
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

DP
type: SiteQuality
SIO_000300: 8.60629e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

QD
type: SiteQuality
SIO_000300: 1.23e1

FS
type: SiteQuality
SIO_000300: 1.121e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.192e0

GenotypeQuality
all individuals: 986
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4393
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 243
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8662
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.693193362682018e-4
allele num: 5906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.044e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeQuality
all individuals: 183
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4932
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.683501683501684e-4
allele num: 5940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.029e0

MQRankSum
type: SiteQuality
SIO_000300: -2.148e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

DP
type: SiteQuality
SIO_000300: 8.0176e5

GenotypeQuality
all individuals: 317
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.401652336807724e-5
allele num: 41638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5816
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 7.88552e5

QD
type: SiteQuality
SIO_000300: 7.8e0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.032e0

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

GenotypeQuality
all individuals: 321
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5306
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6293
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4530
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 111
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.401652336807724e-5
allele num: 41638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.032e0

DP
type: SiteQuality
SIO_000300: 7.88552e5

QD
type: SiteQuality
SIO_000300: 7.8e0