1-228494077-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494077
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494077
    reference: chr 1
allele count: 1
allele frequency: 1.448561578352696e-5
allele num: 69034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3021A>G
  hgvsp: ENST00000366709.4:c.3021A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11664A>G
  hgvsp: ENST00000284548.11:c.11664A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14535A>G
  hgvsp: ENST00000570156.2:c.14535A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11664A>G
  hgvsp: ENST00000422127.1:c.11664A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4566A>G
  hgvsp: ENST00000366707.4:c.4566A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22868
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4698
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro4845Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

1-228494089-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494089
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494089
    reference: chr 1
allele count: 2
allele frequency: 2.706140232186832e-5
allele num: 73906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11676C>G
  hgvsp: ENSP00000284548.11:p.Phe3892Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3033C>G
  hgvsp: ENSP00000355670.4:p.Phe1011Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14547C>G
  hgvsp: ENSP00000455507.2:p.Phe4849Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11676C>G
  hgvsp: ENSP00000409493.1:p.Phe3892Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4578C>G
  hgvsp: ENSP00000355668.4:p.Phe1526Leu
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19445
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 846
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe4849Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-228494090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494090
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494090
    reference: chr 1
allele count: 6
allele frequency: 8.085163724565422e-5
allele num: 74210
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14548C>T
  hgvsp: ENSP00000455507.2:p.Arg4850Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4579C>T
  hgvsp: ENSP00000355668.4:p.Arg1527Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3034C>T
  hgvsp: ENSP00000355670.4:p.Arg1012Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11677C>T
  hgvsp: ENSP00000409493.1:p.Arg3893Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11677C>T
  hgvsp: ENSP00000284548.11:p.Arg3893Trp
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14501
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1173
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
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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: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2987
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg4850Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

1-228494091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494091
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494091
    reference: chr 1
allele count: 1
allele frequency: 1.325837929571489e-5
allele num: 75424
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11678G>A
  hgvsp: ENSP00000409493.1:p.Arg3893Gln
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3035G>A
  hgvsp: ENSP00000355670.4:p.Arg1012Gln
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4580G>A
  hgvsp: ENSP00000355668.4:p.Arg1527Gln
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11678G>A
  hgvsp: ENSP00000284548.11:p.Arg3893Gln
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14549G>A
  hgvsp: ENSP00000455507.2:p.Arg4850Gln
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11725
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg4850Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

1-228494097-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494097
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494097
    reference: chr 1
allele count: 1
allele frequency: 1.270228387063994e-5
allele num: 78726
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3041C>G
  hgvsp: ENSP00000355670.4:p.Pro1014Arg
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14555C>G
  hgvsp: ENSP00000455507.2:p.Pro4852Arg
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11684C>G
  hgvsp: ENSP00000409493.1:p.Pro3895Arg
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4586C>G
  hgvsp: ENSP00000355668.4:p.Pro1529Arg
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11684C>G
  hgvsp: ENSP00000284548.11:p.Pro3895Arg
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro4852Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-228494097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494097
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494097
    reference: chr 1
allele count: 42
allele frequency: 5.334959225668775e-4
allele num: 78726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3041C>T
  hgvsp: ENSP00000355670.4:p.Pro1014Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14555C>T
  hgvsp: ENSP00000455507.2:p.Pro4852Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4586C>T
  hgvsp: ENSP00000355668.4:p.Pro1529Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11684C>T
  hgvsp: ENSP00000409493.1:p.Pro3895Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11684C>T
  hgvsp: ENSP00000284548.11:p.Pro3895Leu
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16695
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro4852Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

1-228494098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494098
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494098
    reference: chr 1
allele count: 15
allele frequency: 1.887837293596456e-4
allele num: 79456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11685G>A
  hgvsp: ENST00000422127.1:c.11685G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3042G>A
  hgvsp: ENST00000366709.4:c.3042G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4587G>A
  hgvsp: ENST00000366707.4:c.4587G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14556G>A
  hgvsp: ENST00000570156.2:c.14556G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11685G>A
  hgvsp: ENST00000284548.11:c.11685G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17218
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17370
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10559
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17619
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3835
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro4852Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

1-228494115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494115
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494115
    reference: chr 1
allele count: 3
allele frequency: 3.411649646325654e-5
allele num: 87934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11702C>T
  hgvsp: ENSP00000284548.11:p.Ala3901Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11702C>T
  hgvsp: ENSP00000409493.1:p.Ala3901Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14573C>T
  hgvsp: ENSP00000455507.2:p.Ala4858Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3059C>T
  hgvsp: ENSP00000355670.4:p.Ala1020Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4604C>T
  hgvsp: ENSP00000355668.4:p.Ala1535Val
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22857
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala4858Val
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-228494116-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494116
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494116
    reference: chr 1
allele count: 4
allele frequency: 4.462393181463218e-5
allele num: 89638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3060G>A
  hgvsp: ENST00000366709.4:c.3060G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11703G>A
  hgvsp: ENST00000422127.1:c.11703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11703G>A
  hgvsp: ENST00000284548.11:c.11703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14574G>A
  hgvsp: ENST00000570156.2:c.14574G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4605G>A
  hgvsp: ENST00000366707.4:c.4605G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2883
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala4858Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-228494118-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494118
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494118
    reference: chr 1
allele count: 1
allele frequency: 1.097116777109756e-5
allele num: 91148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4607A>C
  hgvsp: ENSP00000355668.4:p.Glu1536Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11705A>C
  hgvsp: ENSP00000284548.11:p.Glu3902Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14576A>C
  hgvsp: ENSP00000455507.2:p.Glu4859Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11705A>C
  hgvsp: ENSP00000409493.1:p.Glu3902Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3062A>C
  hgvsp: ENSP00000355670.4:p.Glu1021Ala
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12637
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu4859Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

1-228494124-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494124
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494124
    reference: chr 1
allele count: 1
allele frequency: 1.067076424013488e-5
allele num: 93714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11711G>C
  hgvsp: ENSP00000284548.11:p.Gly3904Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4613G>C
  hgvsp: ENSP00000355668.4:p.Gly1538Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14582G>C
  hgvsp: ENSP00000455507.2:p.Gly4861Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3068G>C
  hgvsp: ENSP00000355670.4:p.Gly1023Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11711G>C
  hgvsp: ENSP00000409493.1:p.Gly3904Ala
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly4861Ala
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

1-228494130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494130
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494130
    reference: chr 1
allele count: 1
allele frequency: 1.030035845247415e-5
allele num: 97084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3074C>T
  hgvsp: ENSP00000355670.4:p.Thr1025Met
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14588C>T
  hgvsp: ENSP00000455507.2:p.Thr4863Met
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4619C>T
  hgvsp: ENSP00000355668.4:p.Thr1540Met
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11717C>T
  hgvsp: ENSP00000284548.11:p.Thr3906Met
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11717C>T
  hgvsp: ENSP00000409493.1:p.Thr3906Met
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11127
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr4863Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-228494131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494131
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494131
    reference: chr 1
allele count: 1
allele frequency: 1.01592977893368e-5
allele num: 98432
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11718G>A
  hgvsp: ENST00000422127.1:c.11718G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4620G>A
  hgvsp: ENST00000366707.4:c.4620G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11718G>A
  hgvsp: ENST00000284548.11:c.11718G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3075G>A
  hgvsp: ENST00000366709.4:c.3075G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14589G>A
  hgvsp: ENST00000570156.2:c.14589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8986
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr4863Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-228494132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494132
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494132
    reference: chr 1
allele count: 1
allele frequency: 1.008308461724611e-5
allele num: 99176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11719G>A
  hgvsp: ENSP00000409493.1:p.Ala3907Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11719G>A
  hgvsp: ENSP00000284548.11:p.Ala3907Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3076G>A
  hgvsp: ENSP00000355670.4:p.Ala1026Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14590G>A
  hgvsp: ENSP00000455507.2:p.Ala4864Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4621G>A
  hgvsp: ENSP00000355668.4:p.Ala1541Thr
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala4864Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-228494133-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494133
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494133
    reference: chr 1
allele count: 1
allele frequency: 9.992605471950756e-6
allele num: 100074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4622C>A
  hgvsp: ENSP00000355668.4:p.Ala1541Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14591C>A
  hgvsp: ENSP00000455507.2:p.Ala4864Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3077C>A
  hgvsp: ENSP00000355670.4:p.Ala1026Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11720C>A
  hgvsp: ENSP00000284548.11:p.Ala3907Asp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11720C>A
  hgvsp: ENSP00000409493.1:p.Ala3907Asp
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala4864Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

1-228494138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494138
    reference: chr 1
allele count: 1
allele frequency: 9.620009620009621e-6
allele num: 103950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3082C>T
  hgvsp: ENST00000366709.4:c.3082C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4627C>T
  hgvsp: ENST00000366707.4:c.4627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11725C>T
  hgvsp: ENST00000422127.1:c.11725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14596C>T
  hgvsp: ENST00000570156.2:c.14596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11725C>T
  hgvsp: ENST00000284548.11:c.11725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7854
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu4866Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-228494143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494143
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494143
    reference: chr 1
allele count: 2
allele frequency: 1.880229387985334e-5
allele num: 106370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4632G>A
  hgvsp: ENST00000366707.4:c.4632G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3087G>A
  hgvsp: ENST00000366709.4:c.3087G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11730G>A
  hgvsp: ENST00000284548.11:c.11730G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11730G>A
  hgvsp: ENST00000422127.1:c.11730G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14601G>A
  hgvsp: ENST00000570156.2:c.14601G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln4867Gln
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

1-228494143-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494143
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494143
    reference: chr 1
allele count: 1
allele frequency: 9.401146939926671e-6
allele num: 106370
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14601G>C
  hgvsp: ENSP00000455507.2:p.Gln4867His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3087G>C
  hgvsp: ENSP00000355670.4:p.Gln1029His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4632G>C
  hgvsp: ENSP00000355668.4:p.Gln1544His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11730G>C
  hgvsp: ENSP00000409493.1:p.Gln3910His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11730G>C
  hgvsp: ENSP00000284548.11:p.Gln3910His
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11048
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln4867His
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

1-228494144-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494144
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494144
    reference: chr 1
allele count: 49
allele frequency: 4.588960272715353e-4
allele num: 106778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11731T>G
  hgvsp: ENSP00000284548.11:p.Cys3911Gly
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14602T>G
  hgvsp: ENSP00000455507.2:p.Cys4868Gly
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4633T>G
  hgvsp: ENSP00000355668.4:p.Cys1545Gly
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3088T>G
  hgvsp: ENSP00000355670.4:p.Cys1030Gly
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11731T>G
  hgvsp: ENSP00000409493.1:p.Cys3911Gly
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 34916
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11104
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41244
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys4868Gly
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-228494145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494145
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494145
    reference: chr 1
allele count: 8
allele frequency: 7.47132877582278e-5
allele num: 107076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11732G>A
  hgvsp: ENSP00000284548.11:p.Cys3911Tyr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3089G>A
  hgvsp: ENSP00000355670.4:p.Cys1030Tyr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11732G>A
  hgvsp: ENSP00000409493.1:p.Cys3911Tyr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14603G>A
  hgvsp: ENSP00000455507.2:p.Cys4868Tyr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4634G>A
  hgvsp: ENSP00000355668.4:p.Cys1545Tyr
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35118
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys4868Tyr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-228494159-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494159
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494159
    reference: chr 1
allele count: 1
allele frequency: 9.065361254645998e-6
allele num: 110310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11746C>T
  hgvsp: ENSP00000284548.11:p.Pro3916Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11746C>T
  hgvsp: ENSP00000409493.1:p.Pro3916Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4648C>T
  hgvsp: ENSP00000355668.4:p.Pro1550Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3103C>T
  hgvsp: ENSP00000355670.4:p.Pro1035Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14617C>T
  hgvsp: ENSP00000455507.2:p.Pro4873Ser
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro4873Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-228494161-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494161
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494161
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 110842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4650C>A
  hgvsp: ENST00000366707.4:c.4650C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11748C>A
  hgvsp: ENST00000284548.11:c.11748C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3105C>A
  hgvsp: ENST00000366709.4:c.3105C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11748C>A
  hgvsp: ENST00000422127.1:c.11748C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14619C>A
  hgvsp: ENST00000570156.2:c.14619C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro4873Pro
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-228494163-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494163
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494163
    reference: chr 1
allele count: 16
allele frequency: 1.438124685410225e-4
allele num: 111256
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14621C>A
  hgvsp: ENSP00000455507.2:p.Thr4874Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11750C>A
  hgvsp: ENSP00000284548.11:p.Thr3917Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3107C>A
  hgvsp: ENSP00000355670.4:p.Thr1036Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4652C>A
  hgvsp: ENSP00000355668.4:p.Thr1551Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11750C>A
  hgvsp: ENSP00000409493.1:p.Thr3917Asn
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 12499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr4874Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-228494163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494163
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494163
    reference: chr 1
allele count: 39
allele frequency: 3.505428920687424e-4
allele num: 111256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11750C>T
  hgvsp: ENSP00000409493.1:p.Thr3917Ile
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4652C>T
  hgvsp: ENSP00000355668.4:p.Thr1551Ile
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14621C>T
  hgvsp: ENSP00000455507.2:p.Thr4874Ile
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3107C>T
  hgvsp: ENSP00000355670.4:p.Thr1036Ile
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11750C>T
  hgvsp: ENSP00000284548.11:p.Thr3917Ile
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12499
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36914
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr4874Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-228494170-A-AGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494170
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494172
    reference: chr 1
allele count: 5
allele frequency: 4.454898606507716e-5
allele num: 112236
alternate allele: AGT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11759_11760dupTG
  hgvsp: ENSP00000409493.1:p.Val3921TrpfsTer83
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11759_11760dupTG
  hgvsp: ENSP00000284548.11:p.Val3921TrpfsTer83
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4661_4662dupTG
  hgvsp: ENSP00000355668.4:p.Val1555TrpfsTer83
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14630_14631dupTG
  hgvsp: ENSP00000455507.2:p.Val4878TrpfsTer83
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3116_3117dupTG
  hgvsp: ENSP00000355670.4:p.Val1040TrpfsTer83
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37309
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val4878TrpfsTer83
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

1-228494181-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494181
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494181
    reference: chr 1
allele count: 2
allele frequency: 1.768096467343258e-5
allele num: 113116
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3125G>C
  hgvsp: ENSP00000355670.4:p.Ser1042Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14639G>C
  hgvsp: ENSP00000455507.2:p.Ser4880Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11768G>C
  hgvsp: ENSP00000284548.11:p.Ser3923Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4670G>C
  hgvsp: ENSP00000355668.4:p.Ser1557Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11768G>C
  hgvsp: ENSP00000409493.1:p.Ser3923Thr
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser4880Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-228494189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494189
    reference: chr 1
allele count: 1
allele frequency: 8.796467338716771e-6
allele num: 113682
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3133G>A
  hgvsp: ENSP00000355670.4:p.Gly1045Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11776G>A
  hgvsp: ENSP00000409493.1:p.Gly3926Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4678G>A
  hgvsp: ENSP00000355668.4:p.Gly1560Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11776G>A
  hgvsp: ENSP00000284548.11:p.Gly3926Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14647G>A
  hgvsp: ENSP00000455507.2:p.Gly4883Ser
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly4883Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

1-228494194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494194
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494194
    reference: chr 1
allele count: 1
allele frequency: 8.773469029654325e-6
allele num: 113980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11781G>A
  hgvsp: ENST00000284548.11:c.11781G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3138G>A
  hgvsp: ENST00000366709.4:c.3138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14652G>A
  hgvsp: ENST00000570156.2:c.14652G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11781G>A
  hgvsp: ENST00000422127.1:c.11781G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4683G>A
  hgvsp: ENST00000366707.4:c.4683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu4884Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-228494196-A-AGCTCCCTTGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494196
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494206
    reference: chr 1
allele count: 2
allele frequency: 1.752326213047821e-5
allele num: 114134
alternate allele: AGCTCCCTTGG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsp: ENSP00000355668.4:p.Gln1564ProfsTer28
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsp: ENSP00000455507.2:p.Gln4887ProfsTer28
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsp: ENSP00000284548.11:p.Gln3930ProfsTer28
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsp: ENSP00000355670.4:p.Gln1049ProfsTer28
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsp: ENSP00000409493.1:p.Gln3930ProfsTer28
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3945
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln4887ProfsTer28
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-228494198-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494198
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494198
    reference: chr 1
allele count: 2
allele frequency: 1.749995625010938e-5
allele num: 114286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11785C>A
  hgvsp: ENSP00000409493.1:p.Leu3929Met
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4687C>A
  hgvsp: ENSP00000355668.4:p.Leu1563Met
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3142C>A
  hgvsp: ENSP00000355670.4:p.Leu1048Met
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14656C>A
  hgvsp: ENSP00000455507.2:p.Leu4886Met
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11785C>A
  hgvsp: ENSP00000284548.11:p.Leu3929Met
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu4886Met
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-228494203-G-GGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494206
    reference: chr 1
allele count: 2
allele frequency: 1.745383460746326e-5
allele num: 114588
alternate allele: GGGA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3148_3149insGAG
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4693_4694insGAG
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14662_14663insGAG
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11791_11792insGAG
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11791_11792insGAG
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2817
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln4887_Ala4888insGly
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-228494205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494205
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494205
    reference: chr 1
allele count: 1
allele frequency: 8.727678961057096e-6
allele num: 114578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3149C>T
  hgvsp: ENSP00000355670.4:p.Ala1050Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4694C>T
  hgvsp: ENSP00000355668.4:p.Ala1565Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11792C>T
  hgvsp: ENSP00000409493.1:p.Ala3931Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14663C>T
  hgvsp: ENSP00000455507.2:p.Ala4888Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11792C>T
  hgvsp: ENSP00000284548.11:p.Ala3931Val
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala4888Val
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: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

1-228494207-A-ACGGCTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494207
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494214
    reference: chr 1
allele count: 2
allele frequency: 1.742767514813524e-5
allele num: 114760
alternate allele: ACGGCTTC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsp: ENSP00000284548.11:p.Asn3932ThrfsTer25
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsp: ENSP00000455507.2:p.Asn4889ThrfsTer25
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3151_3152insCGGCTTC
  hgvsp: ENSP00000355670.4:p.Asn1051ThrfsTer25
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsp: ENSP00000409493.1:p.Asn3932ThrfsTer25
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4696_4697insCGGCTTC
  hgvsp: ENSP00000355668.4:p.Asn1566ThrfsTer25
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn4889ThrfsTer25
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-228494208-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494208
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494208
    reference: chr 1
allele count: 21
allele frequency: 1.829618916517103e-4
allele num: 114778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11795A>G
  hgvsp: ENSP00000284548.11:p.Asn3932Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4697A>G
  hgvsp: ENSP00000355668.4:p.Asn1566Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3152A>G
  hgvsp: ENSP00000355670.4:p.Asn1051Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11795A>G
  hgvsp: ENSP00000409493.1:p.Asn3932Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14666A>G
  hgvsp: ENSP00000455507.2:p.Asn4889Ser
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn4889Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-228494208-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494208
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494207
    reference: chr 1
allele count: 2
allele frequency: 1.742494206206765e-5
allele num: 114778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11796delT
  hgvsp: ENSP00000284548.11:p.Asn3932LysfsTer71
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4698delT
  hgvsp: ENSP00000355668.4:p.Asn1566LysfsTer71
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14667delT
  hgvsp: ENSP00000455507.2:p.Asn4889LysfsTer71
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11796delT
  hgvsp: ENSP00000409493.1:p.Asn3932LysfsTer71
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3153delT
  hgvsp: ENSP00000355670.4:p.Asn1051LysfsTer71
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asn4889LysfsTer71
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: AT
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

1-228494209-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494209
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494209
    reference: chr 1
allele count: 121
allele frequency: 1.054006968641115e-3
allele num: 114800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11796T>C
  hgvsp: ENST00000284548.11:c.11796T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11796T>C
  hgvsp: ENST00000422127.1:c.11796T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4698T>C
  hgvsp: ENST00000366707.4:c.4698T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3153T>C
  hgvsp: ENST00000366709.4:c.3153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14667T>C
  hgvsp: ENST00000570156.2:c.14667T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37423
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Asn4889Asn
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-228494213-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494213
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494213
    reference: chr 1
allele count: 3
allele frequency: 2.60973954799311e-5
allele num: 114954
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11800C>T
  hgvsp: ENSP00000409493.1:p.Arg3934Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3157C>T
  hgvsp: ENSP00000355670.4:p.Arg1053Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4702C>T
  hgvsp: ENSP00000355668.4:p.Arg1568Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11800C>T
  hgvsp: ENSP00000284548.11:p.Arg3934Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14671C>T
  hgvsp: ENSP00000455507.2:p.Arg4891Cys
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg4891Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

1-228494214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494214
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494214
    reference: chr 1
allele count: 5
allele frequency: 4.343369412255251e-5
allele num: 115118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11801G>A
  hgvsp: ENSP00000284548.11:p.Arg3934His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11801G>A
  hgvsp: ENSP00000409493.1:p.Arg3934His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4703G>A
  hgvsp: ENSP00000355668.4:p.Arg1568His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14672G>A
  hgvsp: ENSP00000455507.2:p.Arg4891His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3158G>A
  hgvsp: ENSP00000355670.4:p.Arg1053His
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg4891His
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

1-228494214-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494214
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494214
    reference: chr 1
allele count: 1
allele frequency: 8.686738824510502e-6
allele num: 115118
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14672G>T
  hgvsp: ENSP00000455507.2:p.Arg4891Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4703G>T
  hgvsp: ENSP00000355668.4:p.Arg1568Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11801G>T
  hgvsp: ENSP00000284548.11:p.Arg3934Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11801G>T
  hgvsp: ENSP00000409493.1:p.Arg3934Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3158G>T
  hgvsp: ENSP00000355670.4:p.Arg1053Leu
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg4891Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

1-228494216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494216
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494216
    reference: chr 1
allele count: 174
allele frequency: 1.51062647589943e-3
allele num: 115184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11803C>T
  hgvsp: ENSP00000284548.11:p.Arg3935Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11803C>T
  hgvsp: ENSP00000409493.1:p.Arg3935Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4705C>T
  hgvsp: ENSP00000355668.4:p.Arg1569Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3160C>T
  hgvsp: ENSP00000355670.4:p.Arg1054Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14674C>T
  hgvsp: ENSP00000455507.2:p.Arg4892Trp
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13959
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 37380
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3999
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg4892Trp
num of homozygotes: 4
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-228494222-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494222
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494222
    reference: chr 1
allele count: 3
allele frequency: 2.583712277800744e-5
allele num: 116112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11809C>G
  hgvsp: ENSP00000409493.1:p.Pro3937Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11809C>G
  hgvsp: ENSP00000284548.11:p.Pro3937Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3166C>G
  hgvsp: ENSP00000355670.4:p.Pro1056Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4711C>G
  hgvsp: ENSP00000355668.4:p.Pro1571Ala
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14680C>G
  hgvsp: ENSP00000455507.2:p.Pro4894Ala
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro4894Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-228494224-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494224
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494224
    reference: chr 1
allele count: 1
allele frequency: 8.601854559843102e-6
allele num: 116254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11811A>G
  hgvsp: ENST00000284548.11:c.11811A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11811A>G
  hgvsp: ENST00000422127.1:c.11811A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14682A>G
  hgvsp: ENST00000570156.2:c.14682A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3168A>G
  hgvsp: ENST00000366709.4:c.3168A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4713A>G
  hgvsp: ENST00000366707.4:c.4713A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro4894Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

1-228494225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494225
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494225
    reference: chr 1
allele count: 3
allele frequency: 2.580556367952931e-5
allele num: 116254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11812C>T
  hgvsp: ENSP00000409493.1:p.Arg3938Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4714C>T
  hgvsp: ENSP00000355668.4:p.Arg1572Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3169C>T
  hgvsp: ENSP00000355670.4:p.Arg1057Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11812C>T
  hgvsp: ENSP00000284548.11:p.Arg3938Trp
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14683C>T
  hgvsp: ENSP00000455507.2:p.Arg4895Trp
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37750
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg4895Trp
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

1-228494237-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494237
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494237
    reference: chr 1
allele count: 3
allele frequency: 2.569461098358971e-5
allele num: 116756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3181T>G
  hgvsp: ENSP00000355670.4:p.Cys1061Gly
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11824T>G
  hgvsp: ENSP00000284548.11:p.Cys3942Gly
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11824T>G
  hgvsp: ENSP00000409493.1:p.Cys3942Gly
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4726T>G
  hgvsp: ENSP00000355668.4:p.Cys1576Gly
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14695T>G
  hgvsp: ENSP00000455507.2:p.Cys4899Gly
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys4899Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

1-228494239-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494239
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494239
    reference: chr 1
allele count: 3
allele frequency: 2.568889041119351e-5
allele num: 116782
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3183C>T
  hgvsp: ENST00000366709.4:c.3183C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11826C>T
  hgvsp: ENST00000422127.1:c.11826C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4728C>T
  hgvsp: ENST00000366707.4:c.4728C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14697C>T
  hgvsp: ENST00000570156.2:c.14697C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11826C>T
  hgvsp: ENST00000284548.11:c.11826C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys4899Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-228494242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494242
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494242
    reference: chr 1
allele count: 4
allele frequency: 3.421727972626176e-5
allele num: 116900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11829C>T
  hgvsp: ENST00000284548.11:c.11829C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3186C>T
  hgvsp: ENST00000366709.4:c.3186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11829C>T
  hgvsp: ENST00000422127.1:c.11829C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14700C>T
  hgvsp: ENST00000570156.2:c.14700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4731C>T
  hgvsp: ENST00000366707.4:c.4731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14587
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr4900Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-228494243-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494243
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494243
    reference: chr 1
allele count: 36
allele frequency: 3.077133479212254e-4
allele num: 116992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11830G>A
  hgvsp: ENSP00000409493.1:p.Ala3944Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4732G>A
  hgvsp: ENSP00000355668.4:p.Ala1578Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3187G>A
  hgvsp: ENSP00000355670.4:p.Ala1063Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14701G>A
  hgvsp: ENSP00000455507.2:p.Ala4901Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11830G>A
  hgvsp: ENSP00000284548.11:p.Ala3944Thr
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 9.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala4901Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-228494243-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494243
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494243
    reference: chr 1
allele count: 3
allele frequency: 2.564277899343545e-5
allele num: 116992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11830G>T
  hgvsp: ENSP00000409493.1:p.Ala3944Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4732G>T
  hgvsp: ENSP00000355668.4:p.Ala1578Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3187G>T
  hgvsp: ENSP00000355670.4:p.Ala1063Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11830G>T
  hgvsp: ENSP00000284548.11:p.Ala3944Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14701G>T
  hgvsp: ENSP00000455507.2:p.Ala4901Ser
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala4901Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

1-228494244-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494244
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494244
    reference: chr 1
allele count: 8
allele frequency: 6.835503605728151e-5
allele num: 117036
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14702C>T
  hgvsp: ENSP00000455507.2:p.Ala4901Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3188C>T
  hgvsp: ENSP00000355670.4:p.Ala1063Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11831C>T
  hgvsp: ENSP00000409493.1:p.Ala3944Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11831C>T
  hgvsp: ENSP00000284548.11:p.Ala3944Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4733C>T
  hgvsp: ENSP00000355668.4:p.Ala1578Val
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38056
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala4901Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

1-228494245-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494245
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494245
    reference: chr 1
allele count: 11
allele frequency: 9.389511062551215e-5
allele num: 117152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11832G>A
  hgvsp: ENST00000284548.11:c.11832G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14703G>A
  hgvsp: ENST00000570156.2:c.14703G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11832G>A
  hgvsp: ENST00000422127.1:c.11832G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4734G>A
  hgvsp: ENST00000366707.4:c.4734G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3189G>A
  hgvsp: ENST00000366709.4:c.3189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala4901Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

1-228494249-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494249
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494249
    reference: chr 1
allele count: 1
allele frequency: 8.521516829995738e-6
allele num: 117350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4738C>T
  hgvsp: ENST00000366707.4:c.4738C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14707C>T
  hgvsp: ENST00000570156.2:c.14707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11836C>T
  hgvsp: ENST00000422127.1:c.11836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3193C>T
  hgvsp: ENST00000366709.4:c.3193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11836C>T
  hgvsp: ENST00000284548.11:c.11836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu4903Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

1-228494252-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494252
    reference: chr 1
allele count: 1
allele frequency: 8.510783162266591e-6
allele num: 117498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11839G>C
  hgvsp: ENSP00000409493.1:p.Val3947Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3196G>C
  hgvsp: ENSP00000355670.4:p.Val1066Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11839G>C
  hgvsp: ENSP00000284548.11:p.Val3947Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4741G>C
  hgvsp: ENSP00000355668.4:p.Val1581Leu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14710G>C
  hgvsp: ENSP00000455507.2:p.Val4904Leu
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14761
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val4904Leu
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-228494257-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494257
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494257
    reference: chr 1
allele count: 2
allele frequency: 1.702156632453318e-5
allele num: 117498
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14715A>G
  hgvsp: ENST00000570156.2:c.14715A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4746A>G
  hgvsp: ENST00000366707.4:c.4746A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11844A>G
  hgvsp: ENST00000422127.1:c.11844A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3201A>G
  hgvsp: ENST00000366709.4:c.3201A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11844A>G
  hgvsp: ENST00000284548.11:c.11844A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu4905Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

1-228494264-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494264
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494264
    reference: chr 1
allele count: 1
allele frequency: 8.509189925119129e-6
allele num: 117520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3208C>G
  hgvsp: ENSP00000355670.4:p.Leu1070Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4753C>G
  hgvsp: ENSP00000355668.4:p.Leu1585Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14722C>G
  hgvsp: ENSP00000455507.2:p.Leu4908Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11851C>G
  hgvsp: ENSP00000284548.11:p.Leu3951Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11851C>G
  hgvsp: ENSP00000409493.1:p.Leu3951Val
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu4908Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

1-228494269-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494269
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494269
    reference: chr 1
allele count: 5
allele frequency: 4.26126678939115e-5
allele num: 117336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11856A>G
  hgvsp: ENST00000284548.11:c.11856A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14727A>G
  hgvsp: ENST00000570156.2:c.14727A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3213A>G
  hgvsp: ENST00000366709.4:c.3213A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4758A>G
  hgvsp: ENST00000366707.4:c.4758A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11856A>G
  hgvsp: ENST00000422127.1:c.11856A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln4909Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-228494270-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494270
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494270
    reference: chr 1
allele count: 5
allele frequency: 4.26126678939115e-5
allele num: 117336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11857C>T
  hgvsp: ENSP00000284548.11:p.Arg3953Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11857C>T
  hgvsp: ENSP00000409493.1:p.Arg3953Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3214C>T
  hgvsp: ENSP00000355670.4:p.Arg1072Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4759C>T
  hgvsp: ENSP00000355668.4:p.Arg1587Cys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14728C>T
  hgvsp: ENSP00000455507.2:p.Arg4910Cys
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg4910Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-228494271-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494271
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494271
    reference: chr 1
allele count: 4
allele frequency: 3.409303990590321e-5
allele num: 117326
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14729G>A
  hgvsp: ENSP00000455507.2:p.Arg4910His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4760G>A
  hgvsp: ENSP00000355668.4:p.Arg1587His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11858G>A
  hgvsp: ENSP00000284548.11:p.Arg3953His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3215G>A
  hgvsp: ENSP00000355670.4:p.Arg1072His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11858G>A
  hgvsp: ENSP00000409493.1:p.Arg3953His
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
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genotype quality: GenotypeQuality
  all individuals: 443
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47435
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg4910His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-228494271-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494271
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494271
    reference: chr 1
allele count: 1
allele frequency: 8.523259976475802e-6
allele num: 117326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4760G>C
  hgvsp: ENSP00000355668.4:p.Arg1587Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3215G>C
  hgvsp: ENSP00000355670.4:p.Arg1072Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11858G>C
  hgvsp: ENSP00000284548.11:p.Arg3953Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14729G>C
  hgvsp: ENSP00000455507.2:p.Arg4910Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11858G>C
  hgvsp: ENSP00000409493.1:p.Arg3953Pro
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14806
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg4910Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-228494278-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494278
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494278
    reference: chr 1
allele count: 1
allele frequency: 8.554466286848364e-6
allele num: 116898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11865C>G
  hgvsp: ENSP00000284548.11:p.Asp3955Glu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14736C>G
  hgvsp: ENSP00000455507.2:p.Asp4912Glu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4767C>G
  hgvsp: ENSP00000355668.4:p.Asp1589Glu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11865C>G
  hgvsp: ENSP00000409493.1:p.Asp3955Glu
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3222C>G
  hgvsp: ENSP00000355670.4:p.Asp1074Glu
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp4912Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-228494279-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494279
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494279
    reference: chr 1
allele count: 1
allele frequency: 8.571624494274155e-6
allele num: 116664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11866A>C
  hgvsp: ENSP00000409493.1:p.Thr3956Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14737A>C
  hgvsp: ENSP00000455507.2:p.Thr4913Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4768A>C
  hgvsp: ENSP00000355668.4:p.Thr1590Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11866A>C
  hgvsp: ENSP00000284548.11:p.Thr3956Pro
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3223A>C
  hgvsp: ENSP00000355670.4:p.Thr1075Pro
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3883
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr4913Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

1-228494284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494284
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494284
    reference: chr 1
allele count: 3
allele frequency: 2.579979360165119e-5
allele num: 116280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4773C>T
  hgvsp: ENST00000366707.4:c.4773C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11871C>T
  hgvsp: ENST00000422127.1:c.11871C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14742C>T
  hgvsp: ENST00000570156.2:c.14742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3228C>T
  hgvsp: ENST00000366709.4:c.3228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11871C>T
  hgvsp: ENST00000284548.11:c.11871C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly4914Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-228494285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494285
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494285
    reference: chr 1
allele count: 1
allele frequency: 8.621581542918233e-6
allele num: 115988
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14743G>A
  hgvsp: ENSP00000455507.2:p.Glu4915Lys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3229G>A
  hgvsp: ENSP00000355670.4:p.Glu1077Lys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11872G>A
  hgvsp: ENSP00000409493.1:p.Glu3958Lys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11872G>A
  hgvsp: ENSP00000284548.11:p.Glu3958Lys
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4774G>A
  hgvsp: ENSP00000355668.4:p.Glu1592Lys
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3884
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu4915Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-228494288-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494288
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494288
    reference: chr 1
allele count: 1
allele frequency: 8.630957518427095e-6
allele num: 115862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3232T>C
  hgvsp: ENSP00000355670.4:p.Tyr1078His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14746T>C
  hgvsp: ENSP00000455507.2:p.Tyr4916His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11875T>C
  hgvsp: ENSP00000409493.1:p.Tyr3959His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4777T>C
  hgvsp: ENSP00000355668.4:p.Tyr1593His
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11875T>C
  hgvsp: ENSP00000284548.11:p.Tyr3959His
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34688
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr4916His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-228494290-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494290
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494290
    reference: chr 1
allele count: 1
allele frequency: 8.653363562416712e-6
allele num: 115562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3234C>T
  hgvsp: ENST00000366709.4:c.3234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11877C>T
  hgvsp: ENST00000422127.1:c.11877C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4779C>T
  hgvsp: ENST00000366707.4:c.4779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11877C>T
  hgvsp: ENST00000284548.11:c.11877C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14748C>T
  hgvsp: ENST00000570156.2:c.14748C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34272
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42898
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr4916Tyr
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-228494301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494301
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494301
    reference: chr 1
allele count: 2
allele frequency: 1.761028440609316e-5
allele num: 113570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4790G>A
  hgvsp: ENSP00000355668.4:p.Cys1597Tyr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14759G>A
  hgvsp: ENSP00000455507.2:p.Cys4920Tyr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3245G>A
  hgvsp: ENSP00000355670.4:p.Cys1082Tyr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11888G>A
  hgvsp: ENSP00000284548.11:p.Cys3963Tyr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11888G>A
  hgvsp: ENSP00000409493.1:p.Cys3963Tyr
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37225
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys4920Tyr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

1-228494304-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494304
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494304
    reference: chr 1
allele count: 1
allele frequency: 8.822076363893005e-6
allele num: 113352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4793G>T
  hgvsp: ENSP00000355668.4:p.Gly1598Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14762G>T
  hgvsp: ENSP00000455507.2:p.Gly4921Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11891G>T
  hgvsp: ENSP00000284548.11:p.Gly3964Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11891G>T
  hgvsp: ENSP00000409493.1:p.Gly3964Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3248G>T
  hgvsp: ENSP00000355670.4:p.Gly1083Val
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37156
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly4921Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

1-228494319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494319
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494319
    reference: chr 1
allele count: 8
allele frequency: 7.181070697641019e-5
allele num: 111404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4808G>A
  hgvsp: ENSP00000355668.4:p.Ser1603Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3263G>A
  hgvsp: ENSP00000355670.4:p.Ser1088Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14777G>A
  hgvsp: ENSP00000455507.2:p.Ser4926Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11906G>A
  hgvsp: ENSP00000409493.1:p.Ser3969Asn
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11906G>A
  hgvsp: ENSP00000284548.11:p.Ser3969Asn
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Ser4926Asn
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

1-228494320-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494320
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494320
    reference: chr 1
allele count: 7
allele frequency: 6.290890790135883e-5
allele num: 111272
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14778T>C
  hgvsp: ENST00000570156.2:c.14778T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4809T>C
  hgvsp: ENST00000366707.4:c.4809T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11907T>C
  hgvsp: ENST00000284548.11:c.11907T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3264T>C
  hgvsp: ENST00000366709.4:c.3264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11907T>C
  hgvsp: ENST00000422127.1:c.11907T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29294
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser4926Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-228494321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494321
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494321
    reference: chr 1
allele count: 1
allele frequency: 9.006412565746812e-6
allele num: 111032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4810G>A
  hgvsp: ENSP00000355668.4:p.Ala1604Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11908G>A
  hgvsp: ENSP00000284548.11:p.Ala3970Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11908G>A
  hgvsp: ENSP00000409493.1:p.Ala3970Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3265G>A
  hgvsp: ENSP00000355670.4:p.Ala1089Thr
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14779G>A
  hgvsp: ENSP00000455507.2:p.Ala4927Thr
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29149
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala4927Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-228494327-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494327
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494327
    reference: chr 1
allele count: 1
allele frequency: 9.081497357284268e-6
allele num: 110114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3271C>G
  hgvsp: ENSP00000355670.4:p.Leu1091Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11914C>G
  hgvsp: ENSP00000284548.11:p.Leu3972Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14785C>G
  hgvsp: ENSP00000455507.2:p.Leu4929Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4816C>G
  hgvsp: ENSP00000355668.4:p.Leu1606Val
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11914C>G
  hgvsp: ENSP00000409493.1:p.Leu3972Val
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu4929Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

1-228494327-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494327
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494327
    reference: chr 1
allele count: 1
allele frequency: 9.081497357284268e-6
allele num: 110114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3271C>T
  hgvsp: ENSP00000355670.4:p.Leu1091Phe
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11914C>T
  hgvsp: ENSP00000409493.1:p.Leu3972Phe
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4816C>T
  hgvsp: ENSP00000355668.4:p.Leu1606Phe
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14785C>T
  hgvsp: ENSP00000455507.2:p.Leu4929Phe
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11914C>T
  hgvsp: ENSP00000284548.11:p.Leu3972Phe
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu4929Phe
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-228494331-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494331
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494331
    reference: chr 1
allele count: 1
allele frequency: 9.119261704572398e-6
allele num: 109658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4820C>G
  hgvsp: ENSP00000355668.4:p.Thr1607Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11918C>G
  hgvsp: ENSP00000284548.11:p.Thr3973Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14789C>G
  hgvsp: ENSP00000455507.2:p.Thr4930Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3275C>G
  hgvsp: ENSP00000355670.4:p.Thr1092Ser
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11918C>G
  hgvsp: ENSP00000409493.1:p.Thr3973Ser
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr4930Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-228494343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494343
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494343
    reference: chr 1
allele count: 2
allele frequency: 1.866542230517965e-5
allele num: 107150
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14797+4G>A
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11926+4G>A
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3283+4G>A
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11926+4G>A
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4828+4G>A
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19035
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3808
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
hgvs: c.14797+4G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

1-228494343-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 228494343
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 228494343
    reference: chr 1
allele count: 58
allele frequency: 5.4129724685021e-4
allele num: 107150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355668
  ensembl transcript: ENST00000366707
  gene symbol: OBSCN
  hgvsc: ENST00000366707.4:c.4828+4G>C
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000284548
  ensembl transcript: ENST00000284548
  gene symbol: OBSCN
  hgvsc: ENST00000284548.11:c.11926+4G>C
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000355670
  ensembl transcript: ENST00000366709
  gene symbol: OBSCN
  hgvsc: ENST00000366709.4:c.3283+4G>C
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000455507
  ensembl transcript: ENST00000570156
  gene symbol: OBSCN
  hgvsc: ENST00000570156.2:c.14797+4G>C
  variant of: http://identifiers.org/hgnc/15719
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154358
  ensembl protein: ENSP00000409493
  ensembl transcript: ENST00000422127
  gene symbol: OBSCN
  hgvsc: ENST00000422127.1:c.11926+4G>C
  variant of: http://identifiers.org/hgnc/15719
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19035
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14447
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7972
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 3.75e1
  variant carriers: 0
hgvs: c.14797+4G>C
num of homozygotes: 1
reference allele: G

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

GenotypeQuality
all individuals: 661
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1235
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2264
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1419
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.612466691049689e-5
allele num: 38278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4198
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.89e1

QD
type: SiteQuality
SIO_000300: 3.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.599999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.843e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 8.5086e5

GenotypeQuality
all individuals: 417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20899
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12636
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1232
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3580
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.605136436597111e-4
allele num: 12460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41096
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 1.437e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.539e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e-1

DP
type: SiteQuality
SIO_000300: 8.98949e5

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

GenotypeQuality
all individuals: 1425
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.423419930205506e-5
allele num: 41264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3554
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.171081198436822e-4
allele num: 4606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 7.544322897019992e-4
allele num: 5302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

DP
type: SiteQuality
SIO_000300: 9.07312e5

FS
type: SiteQuality
SIO_000300: 1.559e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

QD
type: SiteQuality
SIO_000300: 2.856e1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

GenotypeQuality
all individuals: 459
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13889
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 983
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.113271344040575e-4
allele num: 4732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41934
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.001e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

DP
type: SiteQuality
SIO_000300: 9.18308e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 586
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.28237549641667e-5
allele num: 43814
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12880
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

FS
type: SiteQuality
SIO_000300: 1.508e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

DP
type: SiteQuality
SIO_000300: 9.53202e5

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.41e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

GenotypeQuality
all individuals: 2736
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 9.75e1
variant carriers: 41

GenotypeQuality
all individuals: 636
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3886
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6946
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.012072434607646e-4
allele num: 4970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.28237549641667e-5
allele num: 43814
num of homozygotes: 0

South Asian
type: Population
allele count: 40
allele frequency: 3.105590062111801e-3
allele num: 12880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.53202e5

QD
type: SiteQuality
SIO_000300: 1.41e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.508e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

GenotypeQuality
all individuals: 19404
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3733
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4002
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.732755954222085e-5
allele num: 12932
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 2.173913043478261e-3
allele num: 5060
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.845759817871372e-4
allele num: 7028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.263057843758486e-5
allele num: 44188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5674
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

FS
type: SiteQuality
SIO_000300: 4.876e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

DP
type: SiteQuality
SIO_000300: 9.67522e5

QD
type: SiteQuality
SIO_000300: 1.416e1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 4.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.106607531518213e-5
allele num: 48702
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.26427429899753e-5
allele num: 13766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.857e0

FS
type: SiteQuality
SIO_000300: 7.338e0

QD
type: SiteQuality
SIO_000300: 1.121e1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.069714e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

GenotypeQuality
all individuals: 2696
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25581
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1440
bin: 9.75e1
variant carriers: 4

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.029820672980052e-5
allele num: 49630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.128911138923655e-4
allele num: 6392
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 7.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.201e1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.091555e6

GenotypeQuality
all individuals: 2537
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26865
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.983418620334008e-5
allele num: 50418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 1.10566e6

QD
type: SiteQuality
SIO_000300: 1.412e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51746
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4948
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.597444089456869e-4
allele num: 6260
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.678e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

QD
type: SiteQuality
SIO_000300: 1.757e1

DP
type: SiteQuality
SIO_000300: 1.136526e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2643
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GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.870417477180907e-5
allele num: 53464
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7006
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.211e0

DP
type: SiteQuality
SIO_000300: 1.184685e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.306e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.845767654767618e-5
allele num: 54178
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.16e-1

QD
type: SiteQuality
SIO_000300: 7.8e0

VQSLOD
type: SiteQuality
SIO_000300: -1.114e0

DP
type: SiteQuality
SIO_000300: 1.201048e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.455e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.85e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 337
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variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.834054728193089e-5
allele num: 54524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

VQSLOD
type: SiteQuality
SIO_000300: -2.04e0

MQ
type: SiteQuality
SIO_000300: 5.75e1

FS
type: SiteQuality
SIO_000300: 1.1994e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

QD
type: SiteQuality
SIO_000300: 2.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

DP
type: SiteQuality
SIO_000300: 1.211042e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 648
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.817388775806921e-5
allele num: 55024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5390
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15030
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

DP
type: SiteQuality
SIO_000300: 1.223397e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.913e0

QD
type: SiteQuality
SIO_000300: 1.104e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 854
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 293
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GenotypeQuality
all individuals: 238
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.754324409669836e-5
allele num: 57002
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.271655e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.588e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e0

FS
type: SiteQuality
SIO_000300: 2.197e0

QD
type: SiteQuality
SIO_000300: 7.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 827
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15678
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.715148188803513e-5
allele num: 58304
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.3026e6

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 8.529e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3396
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GenotypeQuality
all individuals: 892
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10516
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5898
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7480
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 15678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.715148188803513e-5
allele num: 58304
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.269e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.3026e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 49

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 684
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GenotypeQuality
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bin: 8.75e1
variant carriers: 1

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

African
type: Population
allele count: 3
allele frequency: 3.981948500132731e-4
allele num: 7534
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.46790380609733e-5
allele num: 10562
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 45
allele frequency: 7.690992992650829e-4
allele num: 58510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7740
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MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 1.320306311064167e-4
allele num: 7574
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10586
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.193358109720754e-4
allele num: 58658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15752
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.887e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.31165e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 442
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GenotypeQuality
all individuals: 343
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10914
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.659200265472042e-5
allele num: 60270
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.63e1

DP
type: SiteQuality
SIO_000300: 1.351902e6

FS
type: SiteQuality
SIO_000300: 6.841e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.407e0

GenotypeQuality
all individuals: 924
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 694
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 9.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

DP
type: SiteQuality
SIO_000300: 1.35741e6

MQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

QD
type: SiteQuality
SIO_000300: 1.003e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.917e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.090000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 9.75e1
variant carriers: 16

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.645927974191849e-5
allele num: 60756
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.25925925925926e-4
allele num: 16200
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.929e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.381e1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

DP
type: SiteQuality
SIO_000300: 1.364344e6

GenotypeQuality
all individuals: 343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 9.75e1
variant carriers: 40

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 394
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.219512195121951e-3
allele num: 820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.234872808100766e-4
allele num: 8098
num of homozygotes: 0

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

Latino
type: Population
allele count: 23
allele frequency: 2.092050209205021e-3
allele num: 10994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.304299163868589e-4
allele num: 60756
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

DP
type: SiteQuality
SIO_000300: 1.364344e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.381e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.929e0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 212
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variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.0960741282614e-4
allele num: 8202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61266
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

FS
type: SiteQuality
SIO_000300: 3.283e0

DP
type: SiteQuality
SIO_000300: 1.37311e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.77e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e-2

GenotypeQuality
all individuals: 208
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variant carriers: 0

GenotypeQuality
all individuals: 440
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 154
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variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.238656605240146e-5
allele num: 61754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.38266e6

FS
type: SiteQuality
SIO_000300: 6.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.858e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3921
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variant carriers: 0

GenotypeQuality
all individuals: 442
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.11545988258317e-5
allele num: 16352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62040
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.283e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.249e0

QD
type: SiteQuality
SIO_000300: 1.094e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

DP
type: SiteQuality
SIO_000300: 1.388318e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 360
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variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607355257659048e-5
allele num: 62214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 1.157e0

DP
type: SiteQuality
SIO_000300: 1.391533e6

MQ
type: SiteQuality
SIO_000300: 5.873e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.888e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.135e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.824e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1155
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GenotypeQuality
all individuals: 968
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.21099444497961e-5
allele num: 62286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.69e-1

DP
type: SiteQuality
SIO_000300: 1.393474e6

VQSLOD
type: SiteQuality
SIO_000300: -8.260999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.471e1

QD
type: SiteQuality
SIO_000300: 1.97e0

FS
type: SiteQuality
SIO_000300: 6.05e0

MQRankSum
type: SiteQuality
SIO_000300: -4.299e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 709
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GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.206464231891493e-5
allele num: 62374
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.905e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.59e-2

FS
type: SiteQuality
SIO_000300: 8.194000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.395021e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1460
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variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.196522183863956e-5
allele num: 62568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0489e1

MQRankSum
type: SiteQuality
SIO_000300: -4.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

MQ
type: SiteQuality
SIO_000300: 5.512e1

QD
type: SiteQuality
SIO_000300: 6.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 1.398315e6

GenotypeQuality
all individuals: 45931
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 246
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GenotypeQuality
all individuals: 210
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GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.598567683355713e-5
allele num: 62556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.705e0

QD
type: SiteQuality
SIO_000300: 7.4e0

VQSLOD
type: SiteQuality
SIO_000300: -1.438e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.222e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 5.898e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.38e-1

DP
type: SiteQuality
SIO_000300: 1.399416e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 972
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variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.190708656392585e-5
allele num: 62682
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.32e0

FS
type: SiteQuality
SIO_000300: 1.0144e1

DP
type: SiteQuality
SIO_000300: 1.400563e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

MQ
type: SiteQuality
SIO_000300: 5.558e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: -4.243e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

GenotypeQuality
all individuals: 46240
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.116498660201608e-4
allele num: 62696
num of homozygotes: 0

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

South Asian
type: Population
allele count: 12
allele frequency: 7.32421875e-4
allele num: 16384
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.838607035531201e-5
allele num: 11314
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.261e1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 1.761e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

DP
type: SiteQuality
SIO_000300: 1.402418e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46240
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.189996172004593e-5
allele num: 62696
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

DP
type: SiteQuality
SIO_000300: 1.402418e6

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 1.761e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

GenotypeQuality
all individuals: 1574
bin: 9.75e1
variant carriers: 120

GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46188
bin: 6.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.230012300123001e-3
allele num: 6504
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 99
allele frequency: 1.578594891092898e-3
allele num: 62714
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.533568904593639e-4
allele num: 11320
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.271939460515074e-4
allele num: 16386
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.182033096926714e-3
allele num: 846
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.22e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

DP
type: SiteQuality
SIO_000300: 1.407024e6

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
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variant carriers: 0

GenotypeQuality
all individuals: 231
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variant carriers: 0

GenotypeQuality
all individuals: 967
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1466
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.591393742639804e-5
allele num: 62838
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.829242450997704e-5
allele num: 11326
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.191043353978085e-4
allele num: 8396
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.405313e6

FS
type: SiteQuality
SIO_000300: 4.399e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.155e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

GenotypeQuality
all individuals: 229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
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variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588814744200826e-5
allele num: 62940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.440512507626602e-4
allele num: 16390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 7.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

DP
type: SiteQuality
SIO_000300: 1.407201e6

GenotypeQuality
all individuals: 1156
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4024
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.150218541522889e-4
allele num: 8694
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

DP
type: SiteQuality
SIO_000300: 1.407201e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

QD
type: SiteQuality
SIO_000300: 1.173e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

GenotypeQuality
all individuals: 191
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 9.75e1
variant carriers: 167

GenotypeQuality
all individuals: 960
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variant carriers: 1

GenotypeQuality
all individuals: 1145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
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variant carriers: 0

GenotypeQuality
all individuals: 46250
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 4
allele frequency: 3.529827038475115e-4
allele num: 11332
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.736576411197798e-4
allele num: 8716
num of homozygotes: 1

South Asian
type: Population
allele count: 72
allele frequency: 4.393458628264584e-3
allele num: 16388
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.182033096926714e-3
allele num: 846
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 92
allele frequency: 1.460734813121209e-3
allele num: 62982
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 1.423642e6

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 1.091e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 47274
bin: 6.25e1
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GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.829268292682927e-4
allele num: 16400
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.422795e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

FS
type: SiteQuality
SIO_000300: 1.099e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.229e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 279
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4135
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63692
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.184553423359394e-4
allele num: 8442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8956
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.423918e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.35e-1

FS
type: SiteQuality
SIO_000300: 2.339e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.419e0

VQSLOD
type: SiteQuality
SIO_000300: -1.836e-1

QD
type: SiteQuality
SIO_000300: 1.466e1

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
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GenotypeQuality
all individuals: 2284
bin: 2.25e1
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GenotypeQuality
all individuals: 4134
bin: 6.75e1
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GenotypeQuality
all individuals: 47346
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8958
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.139914594323034e-5
allele num: 63696
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.233e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.35e0

FS
type: SiteQuality
SIO_000300: 4.407e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

DP
type: SiteQuality
SIO_000300: 1.424688e6

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 1504
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1172
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47587
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.688965301656768e-5
allele num: 63980
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.46e-1

DP
type: SiteQuality
SIO_000300: 1.429403e6

FS
type: SiteQuality
SIO_000300: 2.629e0

QD
type: SiteQuality
SIO_000300: 1.195e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.828376401755241e-4
allele num: 16408
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.188e1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.826e0

DP
type: SiteQuality
SIO_000300: 1.430435e6

GenotypeQuality
all individuals: 161
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 355
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64082
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.436944072133545e-4
allele num: 16414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

QD
type: SiteQuality
SIO_000300: 1.297e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

DP
type: SiteQuality
SIO_000300: 1.432162e6

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47718
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.087665869045029e-4
allele num: 9194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.181195369714151e-4
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.676539360872954e-4
allele num: 64150
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.519267992257611e-4
allele num: 11366
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.254e1

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.168e0

DP
type: SiteQuality
SIO_000300: 1.434399e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.828376401755241e-4
allele num: 16408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

DP
type: SiteQuality
SIO_000300: 1.434399e6

QD
type: SiteQuality
SIO_000300: 1.254e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.168e0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 442
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55802069051477e-5
allele num: 64184
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.047665488236011e-4
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.759324419422942e-4
allele num: 11368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.301e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

DP
type: SiteQuality
SIO_000300: 1.433562e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.592e0

GenotypeQuality
all individuals: 4160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 125
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variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.542749173358526e-4
allele num: 8468
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.081314878892734e-4
allele num: 9248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.669115358276785e-5
allele num: 64252
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.439024390243902e-4
allele num: 16400
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.331e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.435697e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1163
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.094588005850804e-5
allele num: 16408
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.76e0

MQRankSum
type: SiteQuality
SIO_000300: -9.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

QD
type: SiteQuality
SIO_000300: 3.104e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 8.281000000000001e0

DP
type: SiteQuality
SIO_000300: 1.436804e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 716
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 94
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GenotypeQuality
all individuals: 1505
bin: 9.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550820383983127e-5
allele num: 64482
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.438013e6

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 1.441e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.25e1
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GenotypeQuality
all individuals: 47923
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.068832834544677e-4
allele num: 9356
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

FS
type: SiteQuality
SIO_000300: 3.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.437637e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.3e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 60
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 982
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549090683768628e-5
allele num: 64554
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.305e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: -7.18e-1

FS
type: SiteQuality
SIO_000300: 5.324e0

DP
type: SiteQuality
SIO_000300: 1.436725e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

GenotypeQuality
all individuals: 1142
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 47204
bin: 6.25e1
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GenotypeQuality
all individuals: 4073
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
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variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64476
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.413841807909605e-4
allele num: 11328
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.43173e6

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 2.572e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

QD
type: SiteQuality
SIO_000300: 1.479e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
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Other
type: Population
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.224439818782907e-4
allele num: 16334
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.069747539580659e-4
allele num: 9348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.101736972704715e-5
allele num: 64480
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.437e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 8.895e0

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

DP
type: SiteQuality
SIO_000300: 1.432147e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 1
allele frequency: 1.182033096926714e-4
allele num: 8460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550724188195888e-5
allele num: 64486
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Other
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allele count: 0
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African
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allele frequency: 1.070434596446157e-4
allele num: 9342
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Latino
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allele count: 1
allele frequency: 8.833922261484099e-5
allele num: 11320
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16332
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

FS
type: SiteQuality
SIO_000300: 1.1896e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.456e0

DP
type: SiteQuality
SIO_000300: 1.432573e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.532801961986511e-4
allele num: 6524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64486
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1896e1

ReadPosRankSum
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BaseQRankSum
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DP
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QD
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64284
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South Asian
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allele count: 1
allele frequency: 6.147037128104254e-5
allele num: 16268
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 858
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.419613e6

QD
type: SiteQuality
SIO_000300: 1.929e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9268
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64186
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11242
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.167509559639817e-5
allele num: 16214
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6478
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FS
type: SiteQuality
SIO_000300: 1.341e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.267e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

DP
type: SiteQuality
SIO_000300: 1.414922e6

MQ
type: SiteQuality
SIO_000300: 5.933e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63998
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6456
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East Asian
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allele frequency: 0.0e0
allele num: 8394
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South Asian
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allele count: 2
allele frequency: 1.236858379715523e-4
allele num: 16170
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9212
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Latino
type: Population
allele count: 1
allele frequency: 8.93016610108948e-5
allele num: 11198
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
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MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.35e-1

QD
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.406858e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.566465114821893e-5
allele num: 63838
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 850
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
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FS
type: SiteQuality
SIO_000300: 1.1271e1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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DP
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Latino
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.205783790492739e-5
allele num: 16114
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Other
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
type: SiteQuality
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DP
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FS
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.3e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16064
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11142
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MQ
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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African
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allele num: 8834
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.59836327600537e-5
allele num: 62564
num of homozygotes: 0

FS
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.212709192335678e-4
allele num: 8246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15788
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.449e0

QD
type: SiteQuality
SIO_000300: 7.26e0

FS
type: SiteQuality
SIO_000300: 1.255e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.488e-1

DP
type: SiteQuality
SIO_000300: 1.329789e6

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.23e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

GenotypeQuality
all individuals: 720
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2943
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

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

South Asian
type: Population
allele count: 8
allele frequency: 5.1513200257566e-4
allele num: 15530
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.289629e6

QD
type: SiteQuality
SIO_000300: 1.184e1

FS
type: SiteQuality
SIO_000300: 1.288e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.872e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.82e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 180
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.522549385016772e-4
allele num: 10732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

DP
type: SiteQuality
SIO_000300: 1.284836e6

FS
type: SiteQuality
SIO_000300: 5.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.135e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

QD
type: SiteQuality
SIO_000300: 7.39e0

GenotypeQuality
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1506
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10714
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.459113809585325e-5
allele num: 15482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.2e0

QD
type: SiteQuality
SIO_000300: 1.137e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 1.281967e6

FS
type: SiteQuality
SIO_000300: 1.674e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 205
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1724
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32586
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60820
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.544e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 2.116e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

DP
type: SiteQuality
SIO_000300: 1.259925e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
SIO_000300: 1.086e1

GenotypeQuality
all individuals: 9583
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 799
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 845
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32586
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15332
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.116e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.544e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

QD
type: SiteQuality
SIO_000300: 1.086e1

DP
type: SiteQuality
SIO_000300: 1.259925e6

GenotypeQuality
all individuals: 1515
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 622
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3206
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.651091371396493e-5
allele num: 60566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10568
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: -7.181e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.242341e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

GenotypeQuality
all individuals: 1334
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21892
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variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1068
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5914
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14956
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.943634596695821e-4
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.256e0

DP
type: SiteQuality
SIO_000300: 1.154687e6

QD
type: SiteQuality
SIO_000300: 1.338e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

FS
type: SiteQuality
SIO_000300: 8.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2