3-48474018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474018
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474018
    reference: chr 3
allele count: 2
allele frequency: 1.657495193263939e-5
allele num: 120664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.709C>T
  hgvsp: ENSP00000401194.2:p.His237Tyr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.709C>T
  hgvsp: ENSP00000392898.1:p.His237Tyr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.709C>T
  hgvsp: ENSP00000412300.1:p.His237Tyr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.1036C>T
  hgvsp: ENSP00000379049.1:p.His346Tyr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.1036C>T
  hgvsp: ENSP00000379047.2:p.His346Tyr
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His346Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

3-48474023-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474023
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474023
    reference: chr 3
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.704C>G
  hgvsp: ENSP00000412300.1:p.Ala235Gly
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.704C>G
  hgvsp: ENSP00000392898.1:p.Ala235Gly
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.1031C>G
  hgvsp: ENSP00000379047.2:p.Ala344Gly
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.1031C>G
  hgvsp: ENSP00000379049.1:p.Ala344Gly
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.704C>G
  hgvsp: ENSP00000401194.2:p.Ala235Gly
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3172
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genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala344Gly
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: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-48474024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474024
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474024
    reference: chr 3
allele count: 305
allele frequency: 2.527554487445098e-3
allele num: 120670
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.1030G>A
  hgvsp: ENSP00000379049.1:p.Ala344Thr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.703G>A
  hgvsp: ENSP00000392898.1:p.Ala235Thr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.703G>A
  hgvsp: ENSP00000412300.1:p.Ala235Thr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.703G>A
  hgvsp: ENSP00000401194.2:p.Ala235Thr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.1030G>A
  hgvsp: ENSP00000379047.2:p.Ala344Thr
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18591
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 92
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  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 29
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2774
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala344Thr
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-48474028-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474028
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474028
    reference: chr 3
allele count: 2
allele frequency: 1.657495193263939e-5
allele num: 120664
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.1026G>A
  hgvsp: ENST00000395694.2:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.699G>A
  hgvsp: ENST00000412398.2:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.1026G>A
  hgvsp: ENST00000395696.1:c.1026G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.699G>A
  hgvsp: ENST00000447018.1:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.699G>A
  hgvsp: ENST00000442740.1:c.699G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23632
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys342Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

3-48474031-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474031
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474031
    reference: chr 3
allele count: 7
allele frequency: 5.80113702285648e-5
allele num: 120666
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.1023A>G
  hgvsp: ENST00000395694.2:c.1023A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.696A>G
  hgvsp: ENST00000442740.1:c.696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.696A>G
  hgvsp: ENST00000447018.1:c.696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.1023A>G
  hgvsp: ENST00000395696.1:c.1023A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.696A>G
  hgvsp: ENST00000412398.2:c.696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18732
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13839
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2774
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val341Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

3-48474036-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474036
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474036
    reference: chr 3
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.691C>T
  hgvsp: ENSP00000401194.2:p.Leu231Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.691C>T
  hgvsp: ENSP00000392898.1:p.Leu231Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.1018C>T
  hgvsp: ENSP00000379049.1:p.Leu340Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.1018C>T
  hgvsp: ENSP00000379047.2:p.Leu340Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.691C>T
  hgvsp: ENSP00000412300.1:p.Leu231Phe
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11412
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2776
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13839
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23631
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu340Phe
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/3-48474044-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474044
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474044
    reference: chr 3
allele count: 35
allele frequency: 2.92392775392224e-4
allele num: 119702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.1010T>G
  hgvsp: ENSP00000379049.1:p.Val337Gly
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.683T>G
  hgvsp: ENSP00000401194.2:p.Val228Gly
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.683T>G
  hgvsp: ENSP00000412300.1:p.Val228Gly
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.683T>G
  hgvsp: ENSP00000392898.1:p.Val228Gly
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.1010T>G
  hgvsp: ENSP00000379047.2:p.Val337Gly
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18501
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11442
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23004
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13565
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Val337Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

3-48474047-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474047
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474047
    reference: chr 3
allele count: 1
allele frequency: 8.28775070445881e-6
allele num: 120660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.1007G>C
  hgvsp: ENSP00000379049.1:p.Gly336Ala
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.680G>C
  hgvsp: ENSP00000392898.1:p.Gly227Ala
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.680G>C
  hgvsp: ENSP00000401194.2:p.Gly227Ala
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.1007G>C
  hgvsp: ENSP00000379047.2:p.Gly336Ala
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.680G>C
  hgvsp: ENSP00000412300.1:p.Gly227Ala
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4032
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly336Ala
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

3-48474047-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474047
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474047
    reference: chr 3
allele count: 14
allele frequency: 1.160285098624233e-4
allele num: 120660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.680G>A
  hgvsp: ENSP00000412300.1:p.Gly227Glu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.680G>A
  hgvsp: ENSP00000392898.1:p.Gly227Glu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.1007G>A
  hgvsp: ENSP00000379047.2:p.Gly336Glu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.1007G>A
  hgvsp: ENSP00000379049.1:p.Gly336Glu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.680G>A
  hgvsp: ENSP00000401194.2:p.Gly227Glu
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11487
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18786
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly336Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-48474084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474084
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474084
    reference: chr 3
allele count: 1
allele frequency: 8.290636555074699e-6
allele num: 120618
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.643C>T
  hgvsp: ENSP00000401194.2:p.Leu215Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.643C>T
  hgvsp: ENSP00000412300.1:p.Leu215Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.643C>T
  hgvsp: ENSP00000392898.1:p.Leu215Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.970C>T
  hgvsp: ENSP00000379047.2:p.Leu324Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.970C>T
  hgvsp: ENSP00000379049.1:p.Leu324Phe
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13913
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu324Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-48474085-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474085
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474085
    reference: chr 3
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.969G>C
  hgvsp: ENSP00000379049.1:p.Gln323His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.642G>C
  hgvsp: ENSP00000401194.2:p.Gln214His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.642G>C
  hgvsp: ENSP00000392898.1:p.Gln214His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.969G>C
  hgvsp: ENSP00000379047.2:p.Gln323His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.642G>C
  hgvsp: ENSP00000412300.1:p.Gln214His
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6862
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln323His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-48474086-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474086
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474086
    reference: chr 3
allele count: 208
allele frequency: 1.72459538339082e-3
allele num: 120608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.641A>G
  hgvsp: ENSP00000401194.2:p.Gln214Arg
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.641A>G
  hgvsp: ENSP00000412300.1:p.Gln214Arg
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.968A>G
  hgvsp: ENSP00000379047.2:p.Gln323Arg
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.968A>G
  hgvsp: ENSP00000379049.1:p.Gln323Arg
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.641A>G
  hgvsp: ENSP00000392898.1:p.Gln214Arg
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18706
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6440
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 11399
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 13062
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14024
  bin: 9.75e1
  variant carriers: 199
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4011
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln323Arg
num of homozygotes: 7
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-48474092-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474092
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474092
    reference: chr 3
allele count: 45
allele frequency: 3.731467046999901e-4
allele num: 120596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.635G>A
  hgvsp: ENSP00000401194.2:p.Arg212Gln
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.962G>A
  hgvsp: ENSP00000379049.1:p.Arg321Gln
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.635G>A
  hgvsp: ENSP00000392898.1:p.Arg212Gln
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.635G>A
  hgvsp: ENSP00000412300.1:p.Arg212Gln
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.962G>A
  hgvsp: ENSP00000379047.2:p.Arg321Gln
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13085
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18754
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6829
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg321Gln
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

3-48474093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474093
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474093
    reference: chr 3
allele count: 3
allele frequency: 2.487727212418734e-5
allele num: 120592
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.961C>T
  hgvsp: ENSP00000379047.2:p.Arg321Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.634C>T
  hgvsp: ENSP00000401194.2:p.Arg212Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.634C>T
  hgvsp: ENSP00000412300.1:p.Arg212Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.634C>T
  hgvsp: ENSP00000392898.1:p.Arg212Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.961C>T
  hgvsp: ENSP00000379049.1:p.Arg321Ter
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg321Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

3-48474095-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474095
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474095
    reference: chr 3
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.959T>A
  hgvsp: ENSP00000379047.2:p.Leu320Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.959T>A
  hgvsp: ENSP00000379049.1:p.Leu320Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.632T>A
  hgvsp: ENSP00000401194.2:p.Leu211Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.632T>A
  hgvsp: ENSP00000412300.1:p.Leu211Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.632T>A
  hgvsp: ENSP00000392898.1:p.Leu211Ter
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu320Ter
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-48474136-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474136
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474136
    reference: chr 3
allele count: 2
allele frequency: 1.659861235600704e-5
allele num: 120492
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.918G>T
  hgvsp: ENSP00000379047.2:p.Gln306His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.591G>T
  hgvsp: ENSP00000401194.2:p.Gln197His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.591G>T
  hgvsp: ENSP00000412300.1:p.Gln197His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.918G>T
  hgvsp: ENSP00000379049.1:p.Gln306His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.591G>T
  hgvsp: ENSP00000392898.1:p.Gln197His
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln306His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-48474137-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474137
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474137
    reference: chr 3
allele count: 3
allele frequency: 2.489833181176861e-5
allele num: 120490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.590A>T
  hgvsp: ENSP00000401194.2:p.Gln197Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.917A>T
  hgvsp: ENSP00000379047.2:p.Gln306Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.590A>T
  hgvsp: ENSP00000412300.1:p.Gln197Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.590A>T
  hgvsp: ENSP00000392898.1:p.Gln197Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.917A>T
  hgvsp: ENSP00000379049.1:p.Gln306Leu
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6803
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13870
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln306Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-48474154-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474154
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474154
    reference: chr 3
allele count: 1
allele frequency: 8.30357884248111e-6
allele num: 120430
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.900A>T
  hgvsp: ENST00000395694.2:c.900A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.573A>T
  hgvsp: ENST00000412398.2:c.573A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.573A>T
  hgvsp: ENST00000442740.1:c.573A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.573A>T
  hgvsp: ENST00000447018.1:c.573A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.900A>T
  hgvsp: ENST00000395696.1:c.900A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13868
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser300Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

3-48474155-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474155
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474155
    reference: chr 3
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.572C>T
  hgvsp: ENSP00000401194.2:p.Ser191Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.899C>T
  hgvsp: ENSP00000379047.2:p.Ser300Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.899C>T
  hgvsp: ENSP00000379049.1:p.Ser300Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.572C>T
  hgvsp: ENSP00000412300.1:p.Ser191Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.572C>T
  hgvsp: ENSP00000392898.1:p.Ser191Leu
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23385
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser300Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-48474159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474159
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474159
    reference: chr 3
allele count: 13
allele frequency: 1.079734219269103e-4
allele num: 120400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.568C>T
  hgvsp: ENSP00000392898.1:p.Leu190Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.568C>T
  hgvsp: ENSP00000412300.1:p.Leu190Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.895C>T
  hgvsp: ENSP00000379049.1:p.Leu299Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.568C>T
  hgvsp: ENSP00000401194.2:p.Leu190Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.895C>T
  hgvsp: ENSP00000379047.2:p.Leu299Phe
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu299Phe
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

3-48474167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474167
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474167
    reference: chr 3
allele count: 2
allele frequency: 1.66143315223712e-5
allele num: 120378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.887T>C
  hgvsp: ENSP00000379049.1:p.Val296Ala
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.560T>C
  hgvsp: ENSP00000401194.2:p.Val187Ala
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.560T>C
  hgvsp: ENSP00000392898.1:p.Val187Ala
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.560T>C
  hgvsp: ENSP00000412300.1:p.Val187Ala
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.887T>C
  hgvsp: ENSP00000379047.2:p.Val296Ala
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13876
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 545
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val296Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

3-48474186-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474186
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474186
    reference: chr 3
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.541C>A
  hgvsp: ENSP00000401194.2:p.Pro181Thr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.868C>A
  hgvsp: ENSP00000379049.1:p.Pro290Thr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.541C>A
  hgvsp: ENSP00000392898.1:p.Pro181Thr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.541C>A
  hgvsp: ENSP00000412300.1:p.Pro181Thr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.868C>A
  hgvsp: ENSP00000379047.2:p.Pro290Thr
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6739
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23094
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro290Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

3-48474187-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474187
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474187
    reference: chr 3
allele count: 1
allele frequency: 8.313657676831499e-6
allele num: 120284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.867C>T
  hgvsp: ENST00000395696.1:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.540C>T
  hgvsp: ENST00000412398.2:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.867C>T
  hgvsp: ENST00000395694.2:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.540C>T
  hgvsp: ENST00000442740.1:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.540C>T
  hgvsp: ENST00000447018.1:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro289Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

3-48474192-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474192
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474192
    reference: chr 3
allele count: 1
allele frequency: 8.313934153641504e-6
allele num: 120280
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.862A>C
  hgvsp: ENSP00000379047.2:p.Ser288Arg
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.862A>C
  hgvsp: ENSP00000379049.1:p.Ser288Arg
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.535A>C
  hgvsp: ENSP00000412300.1:p.Ser179Arg
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.535A>C
  hgvsp: ENSP00000392898.1:p.Ser179Arg
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.535A>C
  hgvsp: ENSP00000401194.2:p.Ser179Arg
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser288Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

3-48474194-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474194
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474194
    reference: chr 3
allele count: 4
allele frequency: 3.325407778128793e-5
allele num: 120286
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.860G>A
  hgvsp: ENSP00000379047.2:p.Gly287Asp
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.533G>A
  hgvsp: ENSP00000392898.1:p.Gly178Asp
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.533G>A
  hgvsp: ENSP00000412300.1:p.Gly178Asp
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.533G>A
  hgvsp: ENSP00000401194.2:p.Gly178Asp
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.860G>A
  hgvsp: ENSP00000379049.1:p.Gly287Asp
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly287Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-48474198-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474198
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474198
    reference: chr 3
allele count: 1
allele frequency: 8.313934153641504e-6
allele num: 120280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.529G>T
  hgvsp: ENSP00000412300.1:p.Ala177Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.856G>T
  hgvsp: ENSP00000379047.2:p.Ala286Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.529G>T
  hgvsp: ENSP00000392898.1:p.Ala177Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.856G>T
  hgvsp: ENSP00000379049.1:p.Ala286Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.529G>T
  hgvsp: ENSP00000401194.2:p.Ala177Ser
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala286Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-48474205-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474205
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474205
    reference: chr 3
allele count: 1
allele frequency: 8.314763694415805e-6
allele num: 120268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.849G>T
  hgvsp: ENST00000395696.1:c.849G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.849G>T
  hgvsp: ENST00000395694.2:c.849G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.522G>T
  hgvsp: ENST00000442740.1:c.522G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.522G>T
  hgvsp: ENST00000447018.1:c.522G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.522G>T
  hgvsp: ENST00000412398.2:c.522G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23060
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6757
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly283Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

3-48474206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474206
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474206
    reference: chr 3
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.521G>A
  hgvsp: ENSP00000401194.2:p.Gly174Glu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.848G>A
  hgvsp: ENSP00000379049.1:p.Gly283Glu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.521G>A
  hgvsp: ENSP00000392898.1:p.Gly174Glu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.521G>A
  hgvsp: ENSP00000412300.1:p.Gly174Glu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.848G>A
  hgvsp: ENSP00000379047.2:p.Gly283Glu
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly283Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/3-48474228-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474228
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474229
    reference: chr 3
allele count: 3
allele frequency: 2.496006389776358e-5
allele num: 120192
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.498dupT
  hgvsp: ENSP00000392898.1:p.Ala167CysfsTer13
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.825dupT
  hgvsp: ENSP00000379047.2:p.Ala276CysfsTer13
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.498dupT
  hgvsp: ENSP00000401194.2:p.Ala167CysfsTer13
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.498dupT
  hgvsp: ENSP00000412300.1:p.Ala167CysfsTer13
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.825dupT
  hgvsp: ENSP00000379049.1:p.Ala276CysfsTer13
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13895
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala276CysfsTer13
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-48474242-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474242
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474242
    reference: chr 3
allele count: 3
allele frequency: 2.497294597519354e-5
allele num: 120130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.485G>T
  hgvsp: ENSP00000401194.2:p.Gly162Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.812G>T
  hgvsp: ENSP00000379047.2:p.Gly271Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.485G>T
  hgvsp: ENSP00000412300.1:p.Gly162Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.485G>T
  hgvsp: ENSP00000392898.1:p.Gly162Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.812G>T
  hgvsp: ENSP00000379049.1:p.Gly271Val
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12779
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13901
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 22761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly271Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-48474249-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474249
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474249
    reference: chr 3
allele count: 45886
allele frequency: 3.816899299605716e-1
allele num: 120218
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.805T>C
  hgvsp: ENST00000395694.2:c.805T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.478T>C
  hgvsp: ENST00000412398.2:c.478T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.478T>C
  hgvsp: ENST00000447018.1:c.478T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.478T>C
  hgvsp: ENST00000442740.1:c.478T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.805T>C
  hgvsp: ENST00000395696.1:c.805T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 6.25e1
  variant carriers: 680
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.25e1
  variant carriers: 868
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 366
genotype depth: GenotypeDepth
  all individuals: 25640
  bin: 9.75e1
  variant carriers: 25607
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 9.25e1
  variant carriers: 1368
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 744
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 7.75e1
  variant carriers: 1057
genotype depth: GenotypeDepth
  all individuals: 11488
  bin: 2.75e1
  variant carriers: 378
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 8.25e1
  variant carriers: 1011
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 3.25e1
  variant carriers: 393
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 269
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 428
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 2.25e1
  variant carriers: 366
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 385
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 512
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 574
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 8.75e1
  variant carriers: 1258
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.75e1
  variant carriers: 366
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 6.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 36687
  bin: 9.75e1
  variant carriers: 36162
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.25e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 37
hgvs: p.Leu269Leu
num of homozygotes: 9266
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

3-48474258-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474258
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474258
    reference: chr 3
allele count: 1
allele frequency: 8.33152816889674e-6
allele num: 120026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.469A>T
  hgvsp: ENSP00000392898.1:p.Met157Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.796A>T
  hgvsp: ENSP00000379047.2:p.Met266Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.469A>T
  hgvsp: ENSP00000412300.1:p.Met157Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.469A>T
  hgvsp: ENSP00000401194.2:p.Met157Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.796A>T
  hgvsp: ENSP00000379049.1:p.Met266Leu
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met266Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

3-48474258-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474258
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474258
    reference: chr 3
allele count: 207
allele frequency: 1.724626330961625e-3
allele num: 120026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.469A>G
  hgvsp: ENSP00000412300.1:p.Met157Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.796A>G
  hgvsp: ENSP00000379047.2:p.Met266Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.469A>G
  hgvsp: ENSP00000392898.1:p.Met157Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.796A>G
  hgvsp: ENSP00000379049.1:p.Met266Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.469A>G
  hgvsp: ENSP00000401194.2:p.Met157Val
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29505
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12241
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met266Val
num of homozygotes: 1
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

3-48474261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474261
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474261
    reference: chr 3
allele count: 1
allele frequency: 8.333333333333334e-6
allele num: 120000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.466C>T
  hgvsp: ENSP00000412300.1:p.Leu156Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.793C>T
  hgvsp: ENSP00000379049.1:p.Leu265Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.466C>T
  hgvsp: ENSP00000401194.2:p.Leu156Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.793C>T
  hgvsp: ENSP00000379047.2:p.Leu265Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.466C>T
  hgvsp: ENSP00000392898.1:p.Leu156Phe
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  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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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu265Phe
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

3-48474263-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474263
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474263
    reference: chr 3
allele count: 5
allele frequency: 4.16659722337961e-5
allele num: 120002
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.464A>G
  hgvsp: ENSP00000401194.2:p.Asn155Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.464A>G
  hgvsp: ENSP00000412300.1:p.Asn155Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.791A>G
  hgvsp: ENSP00000379047.2:p.Asn264Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.464A>G
  hgvsp: ENSP00000392898.1:p.Asn155Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.791A>G
  hgvsp: ENSP00000379049.1:p.Asn264Ser
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29604
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn264Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

3-48474272-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474272
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474272
    reference: chr 3
allele count: 1
allele frequency: 8.336390009670212e-6
allele num: 119956
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.782A>T
  hgvsp: ENSP00000379047.2:p.Asp261Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.782A>T
  hgvsp: ENSP00000379049.1:p.Asp261Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.455A>T
  hgvsp: ENSP00000401194.2:p.Asp152Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.455A>T
  hgvsp: ENSP00000412300.1:p.Asp152Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.455A>T
  hgvsp: ENSP00000392898.1:p.Asp152Val
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp261Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

3-48474277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474277
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474277
    reference: chr 3
allele count: 1
allele frequency: 8.338336335134414e-6
allele num: 119928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.777G>A
  hgvsp: ENST00000395696.1:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.450G>A
  hgvsp: ENST00000447018.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.777G>A
  hgvsp: ENST00000395694.2:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.450G>A
  hgvsp: ENST00000412398.2:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.450G>A
  hgvsp: ENST00000442740.1:c.450G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln259Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-48474284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474284
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474284
    reference: chr 3
allele count: 183
allele frequency: 1.527698934784787e-3
allele num: 119788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.443G>A
  hgvsp: ENSP00000392898.1:p.Arg148His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.443G>A
  hgvsp: ENSP00000412300.1:p.Arg148His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.770G>A
  hgvsp: ENSP00000379047.2:p.Arg257His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.770G>A
  hgvsp: ENSP00000379049.1:p.Arg257His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.443G>A
  hgvsp: ENSP00000401194.2:p.Arg148His
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29482
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12253
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39894
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg257His
num of homozygotes: 4
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

3-48474285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474285
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474285
    reference: chr 3
allele count: 2
allele frequency: 1.669170422300117e-5
allele num: 119820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.769C>T
  hgvsp: ENSP00000379049.1:p.Arg257Cys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.442C>T
  hgvsp: ENSP00000412300.1:p.Arg148Cys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.442C>T
  hgvsp: ENSP00000392898.1:p.Arg148Cys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.769C>T
  hgvsp: ENSP00000379047.2:p.Arg257Cys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.442C>T
  hgvsp: ENSP00000401194.2:p.Arg148Cys
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg257Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

3-48474287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474287
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474287
    reference: chr 3
allele count: 1
allele frequency: 8.342927700188551e-6
allele num: 119862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.440C>T
  hgvsp: ENSP00000401194.2:p.Ser147Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.440C>T
  hgvsp: ENSP00000412300.1:p.Ser147Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.767C>T
  hgvsp: ENSP00000379047.2:p.Ser256Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.440C>T
  hgvsp: ENSP00000392898.1:p.Ser147Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.767C>T
  hgvsp: ENSP00000379049.1:p.Ser256Phe
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser256Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

3-48474296-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474296
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474296
    reference: chr 3
allele count: 1
allele frequency: 8.342231713828083e-6
allele num: 119872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.431C>G
  hgvsp: ENSP00000392898.1:p.Ser144Cys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.431C>G
  hgvsp: ENSP00000401194.2:p.Ser144Cys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.758C>G
  hgvsp: ENSP00000379047.2:p.Ser253Cys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.431C>G
  hgvsp: ENSP00000412300.1:p.Ser144Cys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.758C>G
  hgvsp: ENSP00000379049.1:p.Ser253Cys
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser253Cys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-48474298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474298
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474298
    reference: chr 3
allele count: 71
allele frequency: 5.922786879775768e-4
allele num: 119876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.429G>A
  hgvsp: ENST00000442740.1:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.429G>A
  hgvsp: ENST00000412398.2:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.756G>A
  hgvsp: ENST00000395694.2:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.429G>A
  hgvsp: ENST00000447018.1:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.756G>A
  hgvsp: ENST00000395696.1:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 9.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 9009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala252Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

3-48474300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474300
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474300
    reference: chr 3
allele count: 3
allele frequency: 2.501709501492687e-5
allele num: 119918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.754G>A
  hgvsp: ENSP00000379049.1:p.Ala252Thr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.427G>A
  hgvsp: ENSP00000412300.1:p.Ala143Thr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.427G>A
  hgvsp: ENSP00000401194.2:p.Ala143Thr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.754G>A
  hgvsp: ENSP00000379047.2:p.Ala252Thr
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.427G>A
  hgvsp: ENSP00000392898.1:p.Ala143Thr
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala252Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

3-48474308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474308
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474308
    reference: chr 3
allele count: 1
allele frequency: 8.338614455822021e-6
allele num: 119924
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.746G>A
  hgvsp: ENSP00000379047.2:p.Arg249Gln
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.419G>A
  hgvsp: ENSP00000412300.1:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.419G>A
  hgvsp: ENSP00000401194.2:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.419G>A
  hgvsp: ENSP00000392898.1:p.Arg140Gln
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.746G>A
  hgvsp: ENSP00000379049.1:p.Arg249Gln
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40407
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg249Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

3-48474309-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474309
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474309
    reference: chr 3
allele count: 1
allele frequency: 8.337224037884346e-6
allele num: 119944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.418C>A
  hgvsp: ENST00000447018.1:c.418C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.418C>A
  hgvsp: ENST00000412398.2:c.418C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.418C>A
  hgvsp: ENST00000442740.1:c.418C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.745C>A
  hgvsp: ENST00000395696.1:c.745C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.745C>A
  hgvsp: ENST00000395694.2:c.745C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg249Arg
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

3-48474313-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474313
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474313
    reference: chr 3
allele count: 4
allele frequency: 3.332777870354941e-5
allele num: 120020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.414C>T
  hgvsp: ENST00000447018.1:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.414C>T
  hgvsp: ENST00000412398.2:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.741C>T
  hgvsp: ENST00000395694.2:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.741C>T
  hgvsp: ENST00000395696.1:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.414C>T
  hgvsp: ENST00000442740.1:c.414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala247Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

3-48474321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474321
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474321
    reference: chr 3
allele count: 1
allele frequency: 8.328891257995735e-6
allele num: 120064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.406C>T
  hgvsp: ENSP00000412300.1:p.Gln136Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.406C>T
  hgvsp: ENSP00000392898.1:p.Gln136Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.733C>T
  hgvsp: ENSP00000379049.1:p.Gln245Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.406C>T
  hgvsp: ENSP00000401194.2:p.Gln136Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.733C>T
  hgvsp: ENSP00000379047.2:p.Gln245Ter
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln245Ter
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-48474322-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474322
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474322
    reference: chr 3
allele count: 1
allele frequency: 8.327226700419692e-6
allele num: 120088
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.732C>T
  hgvsp: ENST00000395694.2:c.732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.405C>T
  hgvsp: ENST00000447018.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.732C>T
  hgvsp: ENST00000395696.1:c.732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.405C>T
  hgvsp: ENST00000442740.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.405C>T
  hgvsp: ENST00000412398.2:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu244Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

3-48474325-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474325
    reference: chr 3
allele count: 1
allele frequency: 8.324731111185109e-6
allele num: 120124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.402T>C
  hgvsp: ENST00000442740.1:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.729T>C
  hgvsp: ENST00000395696.1:c.729T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.402T>C
  hgvsp: ENST00000412398.2:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.402T>C
  hgvsp: ENST00000447018.1:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.729T>C
  hgvsp: ENST00000395694.2:c.729T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40835
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser243Ser
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

3-48474328-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474328
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474328
    reference: chr 3
allele count: 1
allele frequency: 8.323622440486099e-6
allele num: 120140
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.726G>A
  hgvsp: ENST00000395694.2:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.399G>A
  hgvsp: ENST00000442740.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.399G>A
  hgvsp: ENST00000447018.1:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.399G>A
  hgvsp: ENST00000412398.2:c.399G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.726G>A
  hgvsp: ENST00000395696.1:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val242Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-48474329-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474329
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474329
    reference: chr 3
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.398T>G
  hgvsp: ENSP00000401194.2:p.Val133Gly
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.398T>G
  hgvsp: ENSP00000392898.1:p.Val133Gly
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.725T>G
  hgvsp: ENSP00000379047.2:p.Val242Gly
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.725T>G
  hgvsp: ENSP00000379049.1:p.Val242Gly
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.398T>G
  hgvsp: ENSP00000412300.1:p.Val133Gly
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val242Gly
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-48474330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474330
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474330
    reference: chr 3
allele count: 1
allele frequency: 8.323761008173934e-6
allele num: 120138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.397G>A
  hgvsp: ENSP00000412300.1:p.Val133Met
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.397G>A
  hgvsp: ENSP00000392898.1:p.Val133Met
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.397G>A
  hgvsp: ENSP00000401194.2:p.Val133Met
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.724G>A
  hgvsp: ENSP00000379047.2:p.Val242Met
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.724G>A
  hgvsp: ENSP00000379049.1:p.Val242Met
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
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genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 498
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val242Met
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

3-48474332-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474332
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474332
    reference: chr 3
allele count: 1
allele frequency: 8.322237017310253e-6
allele num: 120160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.395C>A
  hgvsp: ENSP00000401194.2:p.Pro132His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.722C>A
  hgvsp: ENSP00000379049.1:p.Pro241His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.395C>A
  hgvsp: ENSP00000412300.1:p.Pro132His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.722C>A
  hgvsp: ENSP00000379047.2:p.Pro241His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.395C>A
  hgvsp: ENSP00000392898.1:p.Pro132His
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro241His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-48474344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474344
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474344
    reference: chr 3
allele count: 8
allele frequency: 6.655906284839509e-5
allele num: 120194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.710C>T
  hgvsp: ENSP00000379049.1:p.Ala237Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.383C>T
  hgvsp: ENSP00000412300.1:p.Ala128Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.710C>T
  hgvsp: ENSP00000379047.2:p.Ala237Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.383C>T
  hgvsp: ENSP00000401194.2:p.Ala128Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.383C>T
  hgvsp: ENSP00000392898.1:p.Ala128Val
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala237Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

3-48474359-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474359
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474359
    reference: chr 3
allele count: 238
allele frequency: 1.978749230948303e-3
allele num: 120278
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.695C>T
  hgvsp: ENSP00000379047.2:p.Ala232Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.368C>T
  hgvsp: ENSP00000412300.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.695C>T
  hgvsp: ENSP00000379049.1:p.Ala232Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.368C>T
  hgvsp: ENSP00000401194.2:p.Ala123Val
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.368C>T
  hgvsp: ENSP00000392898.1:p.Ala123Val
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12259
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12515
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29867
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 9.75e1
  variant carriers: 155
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 9.75e1
  variant carriers: 234
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala232Val
num of homozygotes: 3
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS

3-48474360-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474360
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474360
    reference: chr 3
allele count: 10
allele frequency: 8.313242996092776e-5
allele num: 120290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.367G>C
  hgvsp: ENSP00000401194.2:p.Ala123Pro
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.694G>C
  hgvsp: ENSP00000379047.2:p.Ala232Pro
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.367G>C
  hgvsp: ENSP00000392898.1:p.Ala123Pro
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.694G>C
  hgvsp: ENSP00000379049.1:p.Ala232Pro
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.367G>C
  hgvsp: ENSP00000412300.1:p.Ala123Pro
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala232Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

3-48474370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474370
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474370
    reference: chr 3
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.684G>A
  hgvsp: ENST00000395696.1:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.357G>A
  hgvsp: ENST00000412398.2:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.357G>A
  hgvsp: ENST00000447018.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.357G>A
  hgvsp: ENST00000442740.1:c.357G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.684G>A
  hgvsp: ENST00000395694.2:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln228Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-48474371-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474371
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474370
    reference: chr 3
allele count: 1
allele frequency: 8.310617645103384e-6
allele num: 120328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.355delC
  hgvsp: ENSP00000401194.2:p.Gln119ArgfsTer3
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.355delC
  hgvsp: ENSP00000392898.1:p.Gln119ArgfsTer3
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.682delC
  hgvsp: ENSP00000379047.2:p.Gln228ArgfsTer3
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.355delC
  hgvsp: ENSP00000412300.1:p.Gln119ArgfsTer3
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.682delC
  hgvsp: ENSP00000379049.1:p.Gln228ArgfsTer3
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln228ArgfsTer3
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TG
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD

3-48474373-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474373
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474373
    reference: chr 3
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.354A>G
  hgvsp: ENST00000447018.1:c.354A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.354A>G
  hgvsp: ENST00000412398.2:c.354A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.681A>G
  hgvsp: ENST00000395696.1:c.681A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.354A>G
  hgvsp: ENST00000442740.1:c.354A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.681A>G
  hgvsp: ENST00000395694.2:c.681A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41321
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu227Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

3-48474377-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474377
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474377
    reference: chr 3
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.677G>A
  hgvsp: ENSP00000379049.1:p.Arg226Gln
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.350G>A
  hgvsp: ENSP00000401194.2:p.Arg117Gln
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.677G>A
  hgvsp: ENSP00000379047.2:p.Arg226Gln
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.350G>A
  hgvsp: ENSP00000392898.1:p.Arg117Gln
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.350G>A
  hgvsp: ENSP00000412300.1:p.Arg117Gln
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg226Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

3-48474378-G-GCTGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474378
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474383
    reference: chr 3
allele count: 1
allele frequency: 8.30827005200977e-6
allele num: 120362
alternate allele: GCTGCC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.675_676insGGCAG
  hgvsp: ENSP00000379049.1:p.Arg226GlyfsTer7
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.348_349insGGCAG
  hgvsp: ENSP00000412300.1:p.Arg117GlyfsTer7
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.348_349insGGCAG
  hgvsp: ENSP00000401194.2:p.Arg117GlyfsTer7
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.348_349insGGCAG
  hgvsp: ENSP00000392898.1:p.Arg117GlyfsTer7
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.675_676insGGCAG
  hgvsp: ENSP00000379047.2:p.Arg226GlyfsTer7
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg226GlyfsTer7
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-48474378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474378
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474378
    reference: chr 3
allele count: 2
allele frequency: 1.661654010401954e-5
allele num: 120362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.349C>T
  hgvsp: ENSP00000392898.1:p.Arg117Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.676C>T
  hgvsp: ENSP00000379049.1:p.Arg226Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.349C>T
  hgvsp: ENSP00000401194.2:p.Arg117Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.676C>T
  hgvsp: ENSP00000379047.2:p.Arg226Ter
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.349C>T
  hgvsp: ENSP00000412300.1:p.Arg117Ter
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg226Ter
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: G
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-48474379-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474379
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474379
    reference: chr 3
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.348G>C
  hgvsp: ENST00000412398.2:c.348G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.348G>C
  hgvsp: ENST00000447018.1:c.348G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.675G>C
  hgvsp: ENST00000395694.2:c.675G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.675G>C
  hgvsp: ENST00000395696.1:c.675G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.348G>C
  hgvsp: ENST00000442740.1:c.348G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val225Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-48474380-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474380
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474380
    reference: chr 3
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.674T>C
  hgvsp: ENSP00000379047.2:p.Val225Ala
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.347T>C
  hgvsp: ENSP00000412300.1:p.Val116Ala
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.347T>C
  hgvsp: ENSP00000392898.1:p.Val116Ala
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.347T>C
  hgvsp: ENSP00000401194.2:p.Val116Ala
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.674T>C
  hgvsp: ENSP00000379049.1:p.Val225Ala
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9073
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val225Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum

3-48474381-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474381
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474381
    reference: chr 3
allele count: 1
allele frequency: 8.307717869901138e-6
allele num: 120370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.346G>C
  hgvsp: ENSP00000412300.1:p.Val116Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.346G>C
  hgvsp: ENSP00000392898.1:p.Val116Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.673G>C
  hgvsp: ENSP00000379049.1:p.Val225Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.346G>C
  hgvsp: ENSP00000401194.2:p.Val116Leu
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.673G>C
  hgvsp: ENSP00000379047.2:p.Val225Leu
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val225Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

3-48474383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474383
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474383
    reference: chr 3
allele count: 13
allele frequency: 1.079949491593009e-4
allele num: 120376
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.671G>A
  hgvsp: ENSP00000379047.2:p.Arg224His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.344G>A
  hgvsp: ENSP00000401194.2:p.Arg115His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.671G>A
  hgvsp: ENSP00000379049.1:p.Arg224His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.344G>A
  hgvsp: ENSP00000392898.1:p.Arg115His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.344G>A
  hgvsp: ENSP00000412300.1:p.Arg115His
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 30035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41349
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg224His
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

3-48474384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474384
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474384
    reference: chr 3
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.670C>T
  hgvsp: ENSP00000379049.1:p.Arg224Cys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.343C>T
  hgvsp: ENSP00000392898.1:p.Arg115Cys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.343C>T
  hgvsp: ENSP00000412300.1:p.Arg115Cys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.670C>T
  hgvsp: ENSP00000379047.2:p.Arg224Cys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.343C>T
  hgvsp: ENSP00000401194.2:p.Arg115Cys
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg224Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

3-48474385-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474385
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474385
    reference: chr 3
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.342C>G
  hgvsp: ENSP00000401194.2:p.Asn114Lys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.342C>G
  hgvsp: ENSP00000412300.1:p.Asn114Lys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.342C>G
  hgvsp: ENSP00000392898.1:p.Asn114Lys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.669C>G
  hgvsp: ENSP00000379047.2:p.Asn223Lys
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.669C>G
  hgvsp: ENSP00000379049.1:p.Asn223Lys
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41346
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn223Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-48474392-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474392
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474392
    reference: chr 3
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.335A>C
  hgvsp: ENSP00000412300.1:p.Tyr112Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.335A>C
  hgvsp: ENSP00000392898.1:p.Tyr112Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.662A>C
  hgvsp: ENSP00000379049.1:p.Tyr221Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.662A>C
  hgvsp: ENSP00000379047.2:p.Tyr221Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.335A>C
  hgvsp: ENSP00000401194.2:p.Tyr112Ser
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2512
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genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 698
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genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9076
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41351
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr221Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

3-48474393-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474393
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474393
    reference: chr 3
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.661T>C
  hgvsp: ENSP00000379049.1:p.Tyr221His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.334T>C
  hgvsp: ENSP00000392898.1:p.Tyr112His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.334T>C
  hgvsp: ENSP00000401194.2:p.Tyr112His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.661T>C
  hgvsp: ENSP00000379047.2:p.Tyr221His
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.334T>C
  hgvsp: ENSP00000412300.1:p.Tyr112His
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr221His
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-48474405-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474405
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474405
    reference: chr 3
allele count: 1
allele frequency: 8.301510874979247e-6
allele num: 120460
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.649G>T
  hgvsp: ENSP00000379047.2:p.Ala217Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.322G>T
  hgvsp: ENSP00000401194.2:p.Ala108Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.649G>T
  hgvsp: ENSP00000379049.1:p.Ala217Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.322G>T
  hgvsp: ENSP00000392898.1:p.Ala108Ser
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.322G>T
  hgvsp: ENSP00000412300.1:p.Ala108Ser
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala217Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-48474411-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474411
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474412
    reference: chr 3
allele count: 1
allele frequency: 8.300959590928711e-6
allele num: 120468
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.315dupT
  hgvsp: ENSP00000401194.2:p.Gly106TrpfsTer40
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.642dupT
  hgvsp: ENSP00000379049.1:p.Gly215TrpfsTer40
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.642dupT
  hgvsp: ENSP00000379047.2:p.Gly215TrpfsTer40
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.315dupT
  hgvsp: ENSP00000412300.1:p.Gly106TrpfsTer40
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.315dupT
  hgvsp: ENSP00000392898.1:p.Gly106TrpfsTer40
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly215TrpfsTer40
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-48474425-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474425
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474425
    reference: chr 3
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.302T>C
  hgvsp: ENSP00000412300.1:p.Leu101Pro
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.302T>C
  hgvsp: ENSP00000392898.1:p.Leu101Pro
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.629T>C
  hgvsp: ENSP00000379049.1:p.Leu210Pro
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.302T>C
  hgvsp: ENSP00000401194.2:p.Leu101Pro
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.629T>C
  hgvsp: ENSP00000379047.2:p.Leu210Pro
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9075
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu210Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

3-48474443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48474443
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48474443
    reference: chr 3
allele count: 2
allele frequency: 1.662344570782632e-5
allele num: 120312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000401194
  ensembl transcript: ENST00000412398
  gene symbol: CCDC51
  hgvsc: ENST00000412398.2:c.284C>T
  hgvsp: ENSP00000401194.2:p.Ser95Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379049
  ensembl transcript: ENST00000395696
  gene symbol: CCDC51
  hgvsc: ENST00000395696.1:c.611C>T
  hgvsp: ENSP00000379049.1:p.Ser204Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000379047
  ensembl transcript: ENST00000395694
  gene symbol: CCDC51
  hgvsc: ENST00000395694.2:c.611C>T
  hgvsp: ENSP00000379047.2:p.Ser204Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000412300
  ensembl transcript: ENST00000447018
  gene symbol: CCDC51
  hgvsc: ENST00000447018.1:c.284C>T
  hgvsp: ENSP00000412300.1:p.Ser95Phe
  variant of: http://identifiers.org/hgnc/25714
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164051
  ensembl protein: ENSP00000392898
  ensembl transcript: ENST00000442740
  gene symbol: CCDC51
  hgvsc: ENST00000442740.1:c.284C>T
  hgvsp: ENSP00000392898.1:p.Ser95Phe
  variant of: http://identifiers.org/hgnc/25714
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser204Phe
num of homozygotes: 1
reference allele: G

GenotypeQuality
all individuals: 4050
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13886
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000210014701029e-5
allele num: 66662
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.37e-1

FS
type: SiteQuality
SIO_000300: 2.281e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.401e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

QD
type: SiteQuality
SIO_000300: 1.523e1

DP
type: SiteQuality
SIO_000300: 1.91822e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13894
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6880
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.137e0

QD
type: SiteQuality
SIO_000300: 1.853e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.532e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.918603e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 6862
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14055
bin: 9.75e1
variant carriers: 303

GenotypeQuality
all individuals: 23506
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 4027
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.999820003599928e-5
allele num: 66668
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.129955046996322e-4
allele num: 9788
num of homozygotes: 0

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

Other
type: Population
allele count: 3
allele frequency: 3.34075723830735e-3
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 245
allele frequency: 2.116813547606705e-2
allele num: 11574
num of homozygotes: 1

East Asian
type: Population
allele count: 43
allele frequency: 4.989556741703411e-3
allele num: 8618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

FS
type: SiteQuality
SIO_000300: 1.746e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

DP
type: SiteQuality
SIO_000300: 1.929093e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.382e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13832
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6900
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000030000300003e-5
allele num: 66666
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

FS
type: SiteQuality
SIO_000300: 6.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 1.919852e6

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.683e0

QD
type: SiteQuality
SIO_000300: 1.226e1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.239854633555421e-4
allele num: 16510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

QD
type: SiteQuality
SIO_000300: 1.35e1

FS
type: SiteQuality
SIO_000300: 1.122e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 1.920226e6

MQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

GenotypeQuality
all individuals: 6886
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4051
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1958
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.021659174499387e-4
allele num: 9788
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.1192e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.804e1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.888e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.192e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

VQSLOD
type: SiteQuality
SIO_000300: -1.973e0

DP
type: SiteQuality
SIO_000300: 1.919888e6

GenotypeQuality
all individuals: 6730
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 150
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3109
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3502
bin: 8.25e1
variant carriers: 2

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.595588235294118e-4
allele num: 6528
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.784552968603349e-4
allele num: 66058
num of homozygotes: 0

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

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

African
type: Population
allele count: 6
allele frequency: 6.278777731268313e-4
allele num: 9556
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e0

QD
type: SiteQuality
SIO_000300: 6.4e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.238e0

VQSLOD
type: SiteQuality
SIO_000300: -2.546e2

FS
type: SiteQuality
SIO_000300: 2.33663e2

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.931501e6

GenotypeQuality
all individuals: 13915
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6903
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.92842e6

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

QD
type: SiteQuality
SIO_000300: 1.533e1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

FS
type: SiteQuality
SIO_000300: 1.106e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeQuality
all individuals: 151
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13915
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 4032
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.042483660130719e-4
allele num: 9792
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.800288046087374e-4
allele num: 66656
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

DP
type: SiteQuality
SIO_000300: 1.92842e6

FS
type: SiteQuality
SIO_000300: 1.106e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

QD
type: SiteQuality
SIO_000300: 1.533e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.53e-1

GenotypeQuality
all individuals: 203
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3152
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.92646e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 5.812e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.624e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13913
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3153
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.926428e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.44e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.492e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6844
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2764
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 194
allele frequency: 1.985264019647974e-2
allele num: 9772
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0016509079994e-5
allele num: 66630
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.036985827860353e-3
allele num: 11572
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.88e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

DP
type: SiteQuality
SIO_000300: 1.933955e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.7e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 23562
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 45

GenotypeQuality
all individuals: 3504
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4013
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 45
allele frequency: 4.604993860008187e-3
allele num: 9772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

QD
type: SiteQuality
SIO_000300: 1.318e1

DP
type: SiteQuality
SIO_000300: 1.92832e6

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13869
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3141
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00228173411793e-5
allele num: 66616
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.171e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.95e-1

DP
type: SiteQuality
SIO_000300: 1.926561e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 4.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23696
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variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.226e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.164e0

QD
type: SiteQuality
SIO_000300: 1.154e1

MQRankSum
type: SiteQuality
SIO_000300: -1.243e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.926407e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13870
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1930
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -5.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

DP
type: SiteQuality
SIO_000300: 1.923054e6

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 3.211e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.387e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.825e1

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 3509
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.796e0

VQSLOD
type: SiteQuality
SIO_000300: -2.622e-1

FS
type: SiteQuality
SIO_000300: 7.064e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.922936e6

QD
type: SiteQuality
SIO_000300: 1.761e1

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
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variant carriers: 0

GenotypeQuality
all individuals: 6774
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3126
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4006
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.328e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.444e0

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 1.920476e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.209e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3503
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.598e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.920518e6

MQRankSum
type: SiteQuality
SIO_000300: -1.005e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.36e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.59e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 13

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

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

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

African
type: Population
allele count: 9
allele frequency: 9.251644736842105e-4
allele num: 9728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008604609182261e-5
allele num: 66476
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.538e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 1.814e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 1.920555e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.35e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.442e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
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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bin: 9.75e1
variant carriers: 1

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

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

Other
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: 9684
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.391e1

ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1930
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22988
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13875
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.032631144155308e-4
allele num: 9684
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: 5.99e-1

FS
type: SiteQuality
SIO_000300: 4.968e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.136e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

DP
type: SiteQuality
SIO_000300: 1.91652e6

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22971
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13878
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2764
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505888022166672e-5
allele num: 66406
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

DP
type: SiteQuality
SIO_000300: 1.916438e6

VQSLOD
type: SiteQuality
SIO_000300: -6.051e-1

FS
type: SiteQuality
SIO_000300: 6.715e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 1.184e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 13881
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 6750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3510
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23070
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.023189278723084e-5
allele num: 66410
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.917375e6

QD
type: SiteQuality
SIO_000300: 1.265e1

FS
type: SiteQuality
SIO_000300: 1.133e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.665e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

GenotypeQuality
all individuals: 4003
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3127
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

FS
type: SiteQuality
SIO_000300: 7.59e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 1.917314e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.982e0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2765
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4007
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13881
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.95e-1

DP
type: SiteQuality
SIO_000300: 1.917134e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.666e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.442e1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6759
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23053
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.86e-1

DP
type: SiteQuality
SIO_000300: 1.917209e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 6.812e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.25e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
all individuals: 6763
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4007
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22818
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

FS
type: SiteQuality
SIO_000300: 2.979e0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.571e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.174e0

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

DP
type: SiteQuality
SIO_000300: 1.91716e6

QD
type: SiteQuality
SIO_000300: 1.496e1

MQ
type: SiteQuality
SIO_000300: 6.002e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.16e-1

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3505
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.592016588906169e-4
allele num: 11574
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.917235e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

VQSLOD
type: SiteQuality
SIO_000300: -2.263e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.31e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 9.585000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.071e0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 19

GenotypeQuality
all individuals: 966
bin: 7.75e1
variant carriers: 53

GenotypeQuality
all individuals: 16538
bin: 6.25e1
variant carriers: 51

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 267
bin: 9.25e1
variant carriers: 46

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 16

East Asian
type: Population
allele count: 2677
allele frequency: 3.117140195621798e-1
allele num: 8588
num of homozygotes: 426

African
type: Population
allele count: 2674
allele frequency: 2.773283551130471e-1
allele num: 9642
num of homozygotes: 382

South Asian
type: Population
allele count: 5312
allele frequency: 3.218223676238943e-1
allele num: 16506
num of homozygotes: 858

Other
type: Population
allele count: 321
allele frequency: 3.566666666666667e-1
allele num: 900
num of homozygotes: 61

European (Non-Finnish)
type: Population
allele count: 29926
allele frequency: 4.506791964097467e-1
allele num: 66402
num of homozygotes: 6737

European (Finnish)
type: Population
allele count: 2628
allele frequency: 3.975794251134644e-1
allele num: 6610
num of homozygotes: 541

Latino
type: Population
allele count: 2348
allele frequency: 2.029386343993086e-1
allele num: 11570
num of homozygotes: 261

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.46e-2

DP
type: SiteQuality
SIO_000300: 4.907926e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

QD
type: SiteQuality
SIO_000300: 1.995e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

GenotypeQuality
all individuals: 9055
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40039
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509889778046203e-5
allele num: 66230
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 5.19e-1

DP
type: SiteQuality
SIO_000300: 1.729121e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

QD
type: SiteQuality
SIO_000300: 1.656e1

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
all individuals: 9055
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 9.75e1
variant carriers: 205

GenotypeQuality
all individuals: 40039
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 188
allele frequency: 2.185538246919321e-2
allele num: 8602
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.059338668277215e-5
allele num: 66230
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.26920281075842e-4
allele num: 16508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

DP
type: SiteQuality
SIO_000300: 1.729121e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.656e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 5.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

GenotypeQuality
all individuals: 9089
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

FS
type: SiteQuality
SIO_000300: 4.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: -4.735e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.709463e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.914e0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.168403501458941e-4
allele num: 9596
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66214
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.744e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

QD
type: SiteQuality
SIO_000300: 1.394e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

DP
type: SiteQuality
SIO_000300: 1.709552e6

MQRankSum
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9582
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.151e1

MQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.348e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.408e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.708335e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.087e0

GenotypeQuality
all individuals: 9056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40042
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2499
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66158
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 3.459e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.707276e6

FS
type: SiteQuality
SIO_000300: 6.694e0

VQSLOD
type: SiteQuality
SIO_000300: -3.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.585e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

GenotypeQuality
all individuals: 240
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 9.75e1
variant carriers: 179

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 17
allele frequency: 1.975366023704392e-3
allele num: 8606
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

South Asian
type: Population
allele count: 163
allele frequency: 9.87400048461352e-3
allele num: 16508
num of homozygotes: 4

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.93e-2

DP
type: SiteQuality
SIO_000300: 1.708637e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.017e0

QD
type: SiteQuality
SIO_000300: 1.269e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

GenotypeQuality
all individuals: 9022
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 709
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026634382566586e-5
allele num: 66080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.061e0

QD
type: SiteQuality
SIO_000300: 1.571e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

DP
type: SiteQuality
SIO_000300: 1.697018e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.501e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.52e-1

GenotypeQuality
all individuals: 1841
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 530
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39995
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512767759893501e-5
allele num: 66104
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 2.051e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.574e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.695597e6

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeQuality
all individuals: 9014
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
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variant carriers: 1

GenotypeQuality
all individuals: 2507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
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variant carriers: 0

GenotypeQuality
all individuals: 40241
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512630464377553e-5
allele num: 66110
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.49e1

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 6.870000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.696129e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.106e0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40125
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51267622678042e-5
allele num: 66108
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 69
allele frequency: 4.179285281647486e-3
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

DP
type: SiteQuality
SIO_000300: 1.700459e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

QD
type: SiteQuality
SIO_000300: 1.382e1

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
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GenotypeQuality
all individuals: 1793
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66136
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.486750348675035e-4
allele num: 8604
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

FS
type: SiteQuality
SIO_000300: 6.097e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.275e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

DP
type: SiteQuality
SIO_000300: 1.694974e6

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 183
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
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GenotypeQuality
all individuals: 2504
bin: 7.25e1
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GenotypeQuality
all individuals: 703
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variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66140
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.31e1

MQRankSum
type: SiteQuality
SIO_000300: -4.51e-1

DP
type: SiteQuality
SIO_000300: 1.695728e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.58e-1

FS
type: SiteQuality
SIO_000300: 2.836e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

GenotypeQuality
all individuals: 704
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
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GenotypeQuality
all individuals: 40513
bin: 6.25e1
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GenotypeQuality
all individuals: 1791
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GenotypeQuality
all individuals: 1379
bin: 8.25e1
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GenotypeQuality
all individuals: 2507
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511532996765319e-5
allele num: 66158
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.727e0

QD
type: SiteQuality
SIO_000300: 1.301e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.696356e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 1381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2508
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40679
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1792
bin: 9.75e1
variant carriers: 4

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66196
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.12e-1

DP
type: SiteQuality
SIO_000300: 1.697932e6

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.332e0

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

GenotypeQuality
all individuals: 702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

DP
type: SiteQuality
SIO_000300: 1.698668e6

MQ
type: SiteQuality
SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 2.41e0

QD
type: SiteQuality
SIO_000300: 1.278e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.087e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.49e0

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9048
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2510
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509433962264151e-5
allele num: 66250
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 1.698778e6

FS
type: SiteQuality
SIO_000300: 3.502e0

QD
type: SiteQuality
SIO_000300: 1.352e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.427e0

GenotypeQuality
all individuals: 2574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9047
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508887346470713e-5
allele num: 66274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.072000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.26e-1

QD
type: SiteQuality
SIO_000300: 1.035e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.257e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

DP
type: SiteQuality
SIO_000300: 1.699398e6

GenotypeQuality
all individuals: 526
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40800
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.787e0

QD
type: SiteQuality
SIO_000300: 1.27e1

DP
type: SiteQuality
SIO_000300: 1.699671e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.161e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.759e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 6.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.67e-1

GenotypeQuality
all individuals: 1786
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.394e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 7.671e0

DP
type: SiteQuality
SIO_000300: 1.699814e6

MQ
type: SiteQuality
SIO_000300: 5.895e1

QD
type: SiteQuality
SIO_000300: 1.096e1

VQSLOD
type: SiteQuality
SIO_000300: -2.074e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.666e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

GenotypeQuality
all individuals: 1383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40711
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 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: 9656
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508568670045861e-5
allele num: 66288
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.699826e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.025e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.801e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 8.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40792
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.7001e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e0

VQSLOD
type: SiteQuality
SIO_000300: -7.351e-1

FS
type: SiteQuality
SIO_000300: 2.941e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQ
type: SiteQuality
SIO_000300: 5.865e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 1.32e1

GenotypeQuality
all individuals: 2510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1782
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 702
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9064
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.52338590512952e-5
allele num: 66322
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028467595396729e-4
allele num: 16510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

FS
type: SiteQuality
SIO_000300: 2.453e0

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.4e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

QD
type: SiteQuality
SIO_000300: 1.534e1

DP
type: SiteQuality
SIO_000300: 1.701285e6

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41166
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

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

African
type: Population
allele count: 206
allele frequency: 2.121087314662274e-2
allele num: 9712
num of homozygotes: 3

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.039956608208281e-5
allele num: 66372
num of homozygotes: 0

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

Latino
type: Population
allele count: 24
allele frequency: 2.074688796680498e-3
allele num: 11568
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.242152466367713e-3
allele num: 892
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.884e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

DP
type: SiteQuality
SIO_000300: 1.716109e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9078
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 9.75e1
variant carriers: 10

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 10
allele frequency: 8.644536652835408e-4
allele num: 11568
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.469e1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.698343e6

FS
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.09e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeQuality
all individuals: 524
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2572
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1381
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505888022166672e-5
allele num: 66406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.906e1

VQSLOD
type: SiteQuality
SIO_000300: -9.364e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.866e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 1.69792e6

QD
type: SiteQuality
SIO_000300: 1.791e1

FS
type: SiteQuality
SIO_000300: 2.229e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.108e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 698
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505888022166672e-5
allele num: 66406
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 1.697833e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.583e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2508
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66406
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.698294e6

VQSLOD
type: SiteQuality
SIO_000300: -4.057e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.286e0

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

FS
type: SiteQuality
SIO_000300: 1.4581e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
type: SiteQuality
SIO_000300: 1.584e1

GenotypeQuality
all individuals: 41303
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 9.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.665e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.471e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.69833e6

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.329e1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 1.698598e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

GenotypeQuality
all individuals: 2508
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.698598e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.329e1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 5.781e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

MQRankSum
type: SiteQuality
SIO_000300: -4.28e-1

QD
type: SiteQuality
SIO_000300: 1.569e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.924e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.152e0

DP
type: SiteQuality
SIO_000300: 1.698203e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.067e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.69811e6

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 6.831e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.698122e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 12

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 13
allele frequency: 7.874015748031496e-4
allele num: 16510
num of homozygotes: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.04e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.61e-2

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.699079e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.167e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.073e0

FS
type: SiteQuality
SIO_000300: 1.987e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

DP
type: SiteQuality
SIO_000300: 1.697988e6

QD
type: SiteQuality
SIO_000300: 1.219e1

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2572
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

FS
type: SiteQuality
SIO_000300: 2.208e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

DP
type: SiteQuality
SIO_000300: 1.698105e6

QD
type: SiteQuality
SIO_000300: 1.158e1

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.26e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

DP
type: SiteQuality
SIO_000300: 1.698393e6

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41304
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2569
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

DP
type: SiteQuality
SIO_000300: 1.698299e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.87e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 1.983e0

VQSLOD
type: SiteQuality
SIO_000300: 3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.477e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2569
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 9.75e1
variant carriers: 1

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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.074e1

DP
type: SiteQuality
SIO_000300: 1.69925e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 1.398e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

VQSLOD
type: SiteQuality
SIO_000300: -3.102e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9088
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.47e-1

DP
type: SiteQuality
SIO_000300: 1.699433e6

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.99e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 8.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2506
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.699165e6

FS
type: SiteQuality
SIO_000300: 6.063e0

QD
type: SiteQuality
SIO_000300: 1.006e1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.867e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.026e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1