2-27327314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327314
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327314
    reference: chr 2
allele count: 1
allele frequency: 2.22667557336896e-5
allele num: 44910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-69C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.287C>T
  hgvsp: ENSP00000385574.3:p.Thr96Ile
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-69C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-69C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-69C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-69C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-1855C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-69C>T
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17674
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr96Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-27327327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327327
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327327
    reference: chr 2
allele count: 3
allele frequency: 9.878169245966414e-5
allele num: 30370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-82C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.274C>T
  hgvsp: ENSP00000385574.3:p.Arg92Cys
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-82C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-82C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-82C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-1868C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-82C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-82C>T
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27964
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg92Cys
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

2-27327328-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327328
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327328
    reference: chr 2
allele count: 1
allele frequency: 3.318070210365652e-5
allele num: 30138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-83G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-83G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-83G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-83G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-83G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.273G>A
  hgvsp: ENSP00000385574.3:p.Met91Ile
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-83G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-1869G>A
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15420
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met91Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-27327347-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327347
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327347
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 20626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.254G>C
  hgvsp: ENSP00000385574.3:p.Gly85Ala
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-102G>C
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-102G>C
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-102G>C
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-102G>C
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-1888G>C
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-102G>C
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-102G>C
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6465
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6384
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly85Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-27327350-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327350
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327350
    reference: chr 2
allele count: 2
allele frequency: 9.874592673052236e-5
allele num: 20254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-105C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-105C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.251C>G
  hgvsp: ENSP00000385574.3:p.Ala84Gly
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-105C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-105C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-105C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-105C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-1891C>G
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33942
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33005
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala84Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-27327352-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327352
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327352
    reference: chr 2
allele count: 1
allele frequency: 5.014542172299669e-5
allele num: 19942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.249T>C
  hgvsp: ENST00000404694.3:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-107T>C
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-107T>C
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-107T>C
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-107T>C
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-1893T>C
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-107T>C
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-107T>C
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala83Ala
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-27327363-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327363
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327361
    reference: chr 2
allele count: 1
allele frequency: 5.253204454717378e-5
allele num: 19036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-120_-11-119delCT
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-120_-11-119delCT
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-120_-11-119delCT
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-120_-11-119delCT
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.236_237delCT
  hgvsp: ENSP00000385574.3:p.Pro79ArgfsTer7
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-120_-11-119delCT
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-1906_-208-1905delCT
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-120_-11-119delCT
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4002
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro79ArgfsTer7
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: CAG
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

2-27327369-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327369
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327369
    reference: chr 2
allele count: 803
allele frequency: 4.291822554783539e-2
allele num: 18710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-124A>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-124A>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-1910A>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-124A>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-124A>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-124A>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.232A>G
  hgvsp: ENSP00000385574.3:p.Ser78Gly
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-124A>G
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 30873
  bin: 2.5e0
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 7.5e0
  variant carriers: 516
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 2.25e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 73
genotype quality: GenotypeQuality
  all individuals: 6114
  bin: 6.25e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 9.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 84
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 6.75e1
  variant carriers: 7
hgvs: p.Ser78Gly
num of homozygotes: 29
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-27327387-CACAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327387
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327383
    reference: chr 2
allele count: 2
allele frequency: 1.120699316373417e-4
allele num: 17846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-146_-11-143delCTGT
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-146_-11-143delCTGT
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-146_-11-143delCTGT
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-146_-11-143delCTGT
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-146_-11-143delCTGT
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-1932_-208-1929delCTGT
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.210_213delCTGT
  hgvsp: ENSP00000385574.3:p.Cys71SerfsTer4
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-146_-11-143delCTGT
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25011
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys71SerfsTer4
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: CACAG
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-27327407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327407
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327407
    reference: chr 2
allele count: 1
allele frequency: 5.77634011090573e-5
allele num: 17312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-162G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-162G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-162G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-162G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-162G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-162G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.194G>A
  hgvsp: ENSP00000385574.3:p.Gly65Glu
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-1948G>A
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18518
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly65Glu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

2-27327413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327413
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327413
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 17100
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-168C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-168C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-168C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-168C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-168C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.188C>T
  hgvsp: ENSP00000385574.3:p.Ser63Phe
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-168C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-1954C>T
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17201
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Ser63Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

2-27327448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327448
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327448
    reference: chr 2
allele count: 4
allele frequency: 2.41196333815726e-4
allele num: 16584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-203C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-203C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-1989C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-203C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.153C>T
  hgvsp: ENST00000404694.3:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-203C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-203C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-203C>T
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr51Tyr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-27327448-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327448
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327448
    reference: chr 2
allele count: 17
allele frequency: 1.025084418716835e-3
allele num: 16584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-1989C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-203C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-203C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-203C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-203C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.153C>G
  hgvsp: ENSP00000385574.3:p.Tyr51Ter
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-203C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-203C>G
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr51Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

2-27327482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327482
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327482
    reference: chr 2
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.119G>A
  hgvsp: ENSP00000385574.3:p.Arg40His
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-237G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-2023G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-237G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-237G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-237G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-237G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-237G>A
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg40His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-27327490-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327490
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327490
    reference: chr 2
allele count: 1
allele frequency: 6.144015728680265e-5
allele num: 16276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-2031C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-245C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-245C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.111C>G
  hgvsp: ENST00000404694.3:c.111C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-245C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-245C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-245C>G
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-245C>G
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu37Leu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-27327500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327500
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327500
    reference: chr 2
allele count: 32
allele frequency: 1.981915025393286e-3
allele num: 16146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.101G>A
  hgvsp: ENSP00000385574.3:p.Arg34His
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-255G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-255G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-255G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-255G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-255G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-255G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-2041G>A
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg34His
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-27327515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327515
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327515
    reference: chr 2
allele count: 3
allele frequency: 1.882057716436638e-4
allele num: 15940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-2056G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-270G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-270G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-270G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-270G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.86G>A
  hgvsp: ENSP00000385574.3:p.Arg29His
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-270G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-270G>A
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg29His
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-27327526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327526
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327526
    reference: chr 2
allele count: 1
allele frequency: 6.325110689437066e-5
allele num: 15810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-281G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-281G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-281G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-281G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.75G>A
  hgvsp: ENST00000404694.3:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-281G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-2067G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-281G>A
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys25Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

2-27327543-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327543
    reference: chr 2
allele count: 11
allele frequency: 7.069408740359897e-4
allele num: 15560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-2084C>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.58C>A
  hgvsp: ENSP00000385574.3:p.His20Asn
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-298C>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-298C>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-298C>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-298C>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-298C>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-298C>A
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His20Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-27327567-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327567
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327567
    reference: chr 2
allele count: 2
allele frequency: 1.386770212175842e-4
allele num: 14422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-322G>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-2108G>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-322G>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-322G>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.34G>T
  hgvsp: ENSP00000385574.3:p.Ala12Ser
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-322G>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-322G>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-322G>T
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4505
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala12Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-27327568-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327568
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327568
    reference: chr 2
allele count: 1
allele frequency: 6.957973838018369e-5
allele num: 14372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-323C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385574
  ensembl transcript: ENST00000404694
  gene symbol: CGREF1
  hgvsc: ENST00000404694.3:c.33C>T
  hgvsp: ENST00000404694.3:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-323C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-2109C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-323C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-323C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-323C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-323C>T
  variant of: http://identifiers.org/hgnc/16962
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys11Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-27327619-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327619
    reference: chr 2
allele count: 1
allele frequency: 1.1936022917164e-4
allele num: 8378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-374G>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-374G>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-374G>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-374G>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-2160G>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-374G>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-374G>T
  variant of: http://identifiers.org/hgnc/16962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-27327619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327619
    reference: chr 2
allele count: 1
allele frequency: 1.1936022917164e-4
allele num: 8378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-374G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-374G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-374G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-374G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-2160G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-374G>A
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-374G>A
  variant of: http://identifiers.org/hgnc/16962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-27327620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327620
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327620
    reference: chr 2
allele count: 9
allele frequency: 1.087219135056777e-3
allele num: 8278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-375C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-375C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-2161C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-375C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-375C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-375C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-375C>T
  variant of: http://identifiers.org/hgnc/16962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-27327644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27327644
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27327644
    reference: chr 2
allele count: 7
allele frequency: 1.336387934326079e-3
allele num: 5238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000395042
  ensembl transcript: ENST00000452318
  gene symbol: CGREF1
  hgvsc: ENST00000452318.2:c.-208-2185C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000386113
  ensembl transcript: ENST00000405600
  gene symbol: CGREF1
  hgvsc: ENST00000405600.1:c.-11-399C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000324025
  ensembl transcript: ENST00000312734
  gene symbol: CGREF1
  hgvsc: ENST00000312734.4:c.-11-399C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000260595
  ensembl transcript: ENST00000260595
  gene symbol: CGREF1
  hgvsc: ENST00000260595.5:c.-11-399C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385452
  ensembl transcript: ENST00000402394
  gene symbol: CGREF1
  hgvsc: ENST00000402394.1:c.-11-399C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000385103
  ensembl transcript: ENST00000402550
  gene symbol: CGREF1
  hgvsc: ENST00000402550.1:c.-11-399C>T
  variant of: http://identifiers.org/hgnc/16962
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138028
  ensembl protein: ENSP00000394306
  ensembl transcript: ENST00000440612
  gene symbol: CGREF1
  hgvsc: ENST00000440612.1:c.-11-399C>T
  variant of: http://identifiers.org/hgnc/16962
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-27346766-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27346766
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27346766
    reference: chr 2
allele count: 1
allele frequency: 9.599877121572845e-6
allele num: 104168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143994
  ensembl transcript: ENST00000489120
  gene symbol: ABHD1
  hgvsc: ENST00000489120.1:n.85G>T
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000326491
  ensembl transcript: ENST00000316470
  gene symbol: ABHD1
  hgvsc: ENST00000316470.4:c.-51G>T
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000390390
  ensembl transcript: ENST00000420647
  gene symbol: ABHD1
  hgvsc: ENST00000420647.1:c.-79G>T
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000397522
  ensembl transcript: ENST00000416071
  gene symbol: ABHD1
  hgvsc: ENST00000416071.1:c.-79G>T
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000410756
  ensembl transcript: ENST00000448950
  gene symbol: ABHD1
  hgvsc: ENST00000448950.1:c.-51G>T
  variant of: http://identifiers.org/hgnc/17553
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7059
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6076
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-27346772-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27346772
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27346772
    reference: chr 2
allele count: 3
allele frequency: 2.8235825615541e-5
allele num: 106248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000410756
  ensembl transcript: ENST00000448950
  gene symbol: ABHD1
  hgvsc: ENST00000448950.1:c.-45C>A
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000390390
  ensembl transcript: ENST00000420647
  gene symbol: ABHD1
  hgvsc: ENST00000420647.1:c.-73C>A
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000326491
  ensembl transcript: ENST00000316470
  gene symbol: ABHD1
  hgvsc: ENST00000316470.4:c.-45C>A
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143994
  ensembl transcript: ENST00000489120
  gene symbol: ABHD1
  hgvsc: ENST00000489120.1:n.91C>A
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000397522
  ensembl transcript: ENST00000416071
  gene symbol: ABHD1
  hgvsc: ENST00000416071.1:c.-73C>A
  variant of: http://identifiers.org/hgnc/17553
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25110
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-27346772-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27346772
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27346772
    reference: chr 2
allele count: 137
allele frequency: 1.289436036443039e-3
allele num: 106248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000397522
  ensembl transcript: ENST00000416071
  gene symbol: ABHD1
  hgvsc: ENST00000416071.1:c.-73C>G
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000390390
  ensembl transcript: ENST00000420647
  gene symbol: ABHD1
  hgvsc: ENST00000420647.1:c.-73C>G
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143994
  ensembl transcript: ENST00000489120
  gene symbol: ABHD1
  hgvsc: ENST00000489120.1:n.91C>G
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000326491
  ensembl transcript: ENST00000316470
  gene symbol: ABHD1
  hgvsc: ENST00000316470.4:c.-45C>G
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000410756
  ensembl transcript: ENST00000448950
  gene symbol: ABHD1
  hgvsc: ENST00000448950.1:c.-45C>G
  variant of: http://identifiers.org/hgnc/17553
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22755
  bin: 2.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15975
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7380
  bin: 1.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5820
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.75e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5575
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3175
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

2-27346776-GGCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27346776
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27346772
    reference: chr 2
allele count: 1
allele frequency: 9.321749505947275e-6
allele num: 107276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143994
  ensembl transcript: ENST00000489120
  gene symbol: ABHD1
  hgvsc: ENST00000489120.1:n.101_104delCCAG
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000390390
  ensembl transcript: ENST00000420647
  gene symbol: ABHD1
  hgvsc: ENST00000420647.1:c.-63_-60delCCAG
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000397522
  ensembl transcript: ENST00000416071
  gene symbol: ABHD1
  hgvsc: ENST00000416071.1:c.-63_-60delCCAG
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000326491
  ensembl transcript: ENST00000316470
  gene symbol: ABHD1
  hgvsc: ENST00000316470.4:c.-35_-32delCCAG
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000410756
  ensembl transcript: ENST00000448950
  gene symbol: ABHD1
  hgvsc: ENST00000448950.1:c.-35_-32delCCAG
  variant of: http://identifiers.org/hgnc/17553
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29196
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4990
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: GGCCA
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-27346785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27346785
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27346785
    reference: chr 2
allele count: 1
allele frequency: 8.800802633200148e-6
allele num: 113626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000397522
  ensembl transcript: ENST00000416071
  gene symbol: ABHD1
  hgvsc: ENST00000416071.1:c.-60G>A
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000326491
  ensembl transcript: ENST00000316470
  gene symbol: ABHD1
  hgvsc: ENST00000316470.4:c.-32G>A
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000143994
  ensembl transcript: ENST00000489120
  gene symbol: ABHD1
  hgvsc: ENST00000489120.1:n.104G>A
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000390390
  ensembl transcript: ENST00000420647
  gene symbol: ABHD1
  hgvsc: ENST00000420647.1:c.-60G>A
  variant of: http://identifiers.org/hgnc/17553
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000143994
  ensembl protein: ENSP00000410756
  ensembl transcript: ENST00000448950
  gene symbol: ABHD1
  hgvsc: ENST00000448950.1:c.-32G>A
  variant of: http://identifiers.org/hgnc/17553
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9673
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

5-65440170-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440170
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440170
    reference: chr 5
allele count: 1
allele frequency: 5.77634011090573e-5
allele num: 17312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.-35T>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.-35T>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.79T>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4331T>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.36T>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.295A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.-35T>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.7T>C
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5440
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

5-65440186-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440186
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440186
    reference: chr 5
allele count: 2
allele frequency: 1.109877913429523e-4
allele num: 18020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4347C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.-19C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.-19C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.95C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.52C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.-19C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.23C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.279G>C
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22568
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

5-65440187-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440187
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440187
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 18202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.24A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.-18A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.53A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.96A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.-18A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4348A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.278T>C
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26119
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff

5-65440190-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440190
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440190
    reference: chr 5
allele count: 23
allele frequency: 1.252996295489213e-3
allele num: 18356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4351G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.-15G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.275C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.-15G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.-15G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.56G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.99G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.27G>C
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26214
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 2.25e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

5-65440194-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440194
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440194
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 18528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.60G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.-11G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.-11G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.103G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.31G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.271C>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.-11G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4355G>C
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3211
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

5-65440210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440210
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440210
    reference: chr 5
allele count: 1
allele frequency: 5.221932114882507e-5
allele num: 19150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.76C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.119C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4371C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.6C>T
  hgvsp: ENST00000334121.6:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.6C>T
  hgvsp: ENST00000522912.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.47C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.255G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.6C>T
  hgvsp: ENST00000520953.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6477
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn2Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS

5-65440232-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440232
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440232
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 19786
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4393G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.98G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.28G>C
  hgvsp: ENSP00000428970.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.233C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.28G>C
  hgvsp: ENSP00000427935.1:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.28G>C
  hgvsp: ENSP00000334538.6:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.69G>C
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.141G>C
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26321
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly10Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

5-65440238-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440238
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440238
    reference: chr 5
allele count: 1
allele frequency: 5.026135906714917e-5
allele num: 19896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.34G>A
  hgvsp: ENSP00000427935.1:p.Gly12Ser
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.147G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.227C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4399G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.75G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.34G>A
  hgvsp: ENSP00000334538.6:p.Gly12Ser
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.104G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.34G>A
  hgvsp: ENSP00000428970.1:p.Gly12Ser
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31278
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27742
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly12Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP

5-65440253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440253
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440253
    reference: chr 5
allele count: 1
allele frequency: 5.003502451716201e-5
allele num: 19986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.162C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.119C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.49C>T
  hgvsp: ENSP00000334538.6:p.Pro17Ser
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.212G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4414C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.49C>T
  hgvsp: ENSP00000428970.1:p.Pro17Ser
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.49C>T
  hgvsp: ENSP00000427935.1:p.Pro17Ser
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.90C>T
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33851
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30476
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Pro17Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

5-65440280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440280
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440280
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 20030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.76C>T
  hgvsp: ENST00000522912.1:c.76C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.117C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.185G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.189C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.146C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.76C>T
  hgvsp: ENST00000334121.6:c.76C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.66+10C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4441C>T
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu26Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

5-65440291-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440291
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440291
    reference: chr 5
allele count: 2
allele frequency: 9.997000899730081e-5
allele num: 20006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.128G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.157G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.87G>A
  hgvsp: ENST00000334121.6:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.66+21G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.87G>A
  hgvsp: ENST00000522912.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4452G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.200G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.174C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33759
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7769
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala29Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

5-65440311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440311
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440311
    reference: chr 5
allele count: 1
allele frequency: 5.042864346949067e-5
allele num: 19830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.66+41G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.148G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.220G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.154C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4472G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.107G>A
  hgvsp: ENSP00000427935.1:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.107G>A
  hgvsp: ENSP00000334538.6:p.Arg36Gln
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.177G>A
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8524
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33500
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg36Gln
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

5-65440339-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440339
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440339
    reference: chr 5
allele count: 30
allele frequency: 1.615334912771915e-3
allele num: 18572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.66+69C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.176C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.248C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.138-12G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4500C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.135C>T
  hgvsp: ENST00000334121.6:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.135C>T
  hgvsp: ENST00000522912.1:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.205C>T
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34495
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32356
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile45Ile
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/5-65440356-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440356
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440357
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 16706
alternate allele: AC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.158dupC
  hgvsp: ENSP00000334538.6:p.Asp54GlyfsTer15
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.66+92dupC
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.158dupC
  hgvsp: ENSP00000427935.1:p.Asp54GlyfsTer15
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.228dupC
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.271dupC
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.199dupC
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.138-30dupG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4523dupC
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8071
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp54GlyfsTer15
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/5-65440360-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440360
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440360
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 16382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4521C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.138-33G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.197C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.156C>A
  hgvsp: ENST00000334121.6:c.156C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.226C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.269C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.156C>A
  hgvsp: ENST00000522912.1:c.156C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.66+90C>A
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7763
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Pro52Pro
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

5-65440360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440360
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440360
    reference: chr 5
allele count: 1
allele frequency: 6.104260774020266e-5
allele num: 16382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.156C>T
  hgvsp: ENST00000334121.6:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4521C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.197C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.66+90C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.156C>T
  hgvsp: ENST00000522912.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.226C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.269C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.138-33G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33319
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro52Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

5-65440361-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440361
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440361
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 16310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4522C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.138-34G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.227C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.270C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.157C>G
  hgvsp: ENSP00000334538.6:p.Pro53Ala
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.157C>G
  hgvsp: ENSP00000427935.1:p.Pro53Ala
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.66+91C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.198C>G
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 35308
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro53Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

5-65440378-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440378
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440377
    reference: chr 5
allele count: 1
allele frequency: 7.108330963889678e-5
allele num: 14068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.274+14delC
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.202+14delC
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.231+14delC
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.66+109delC
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.161+14delC
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.161+14delC
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4540delC
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.138-52delG
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: GC
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

5-65440381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440381
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440381
    reference: chr 5
allele count: 1
allele frequency: 7.285443683520327e-5
allele num: 13726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.66+111C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.161+16C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.161+16C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4542C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.202+16C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.231+16C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.138-54G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.274+16C>T
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3450
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32099
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

5-65440392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440392
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440392
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 12628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.231+27G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.161+27G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.66+122G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.138-65C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.161+27G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.202+27G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.274+27G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4553G>A
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

5-65440402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440402
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440402
    reference: chr 5
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.202+37C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.138-75G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.161+37C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4563C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.161+37C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.231+37C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.66+132C>T
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.274+37C>T
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6283
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

1-9815128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815128
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815128
    reference: chr 1
allele count: 1
allele frequency: 8.641548565502938e-6
allele num: 115720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.440+44C>T
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.440+44C>T
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.410+44C>T
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

1-9815135-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815135
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815135
    reference: chr 1
allele count: 3
allele frequency: 2.592061380013479e-5
allele num: 115738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.440+37G>A
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.440+37G>A
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.410+37G>A
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6264
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17372
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

1-9815136-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815136
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815136
    reference: chr 1
allele count: 4
allele frequency: 3.447265456676491e-5
allele num: 116034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.440+36C>T
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.410+36C>T
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.440+36C>T
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8900
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17369
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14185
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-9815141-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815141
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815141
    reference: chr 1
allele count: 3
allele frequency: 2.579846241164027e-5
allele num: 116286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.440+31C>A
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.440+31C>A
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.410+31C>A
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17366
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-9815189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815189
    reference: chr 1
allele count: 3
allele frequency: 2.488263689597399e-5
allele num: 120566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.393C>T
  hgvsp: ENST00000361311.4:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.423C>T
  hgvsp: ENST00000377298.4:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.423C>T
  hgvsp: ENST00000377288.3:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17370
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6595
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn141Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/5-65440413-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65440413
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65440413
    reference: chr 5
allele count: 1
allele frequency: 9.595087315294569e-5
allele num: 10422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.66+143C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-312+4574C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.202+48C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.161+48C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.161+48C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.274+48C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000253744
  ensembl transcript: ENST00000521596
  gene symbol: AC025442.3
  hgvsc: ENST00000521596.1:n.137+74G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.231+48C>A
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

5-65449240-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65449240
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65449240
    reference: chr 5
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.232-51A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.67-156A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-311-51A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.162-51A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.162-51A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.203-51A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.275-51A>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000370305
  ensembl transcript: ENST00000380918
  gene symbol: SREK1
  hgvsc: ENST00000380918.3:c.-311-51A>G
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

5-65449244-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65449244
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65449244
    reference: chr 5
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.203-47C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000370305
  ensembl transcript: ENST00000380918
  gene symbol: SREK1
  hgvsc: ENST00000380918.3:c.-311-47C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.162-47C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.162-47C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-311-47C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.232-47C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.275-47C>G
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.67-152C>G
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

5-65449248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65449248
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65449248
    reference: chr 5
allele count: 5
allele frequency: 4.152616979220305e-5
allele num: 120406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.67-148G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000370305
  ensembl transcript: ENST00000380918
  gene symbol: SREK1
  hgvsc: ENST00000380918.3:c.-311-43G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.203-43G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.275-43G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.232-43G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-311-43G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.162-43G>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.162-43G>A
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51282
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/5-65449249-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 65449249
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 65449249
    reference: chr 5
allele count: 2
allele frequency: 1.661212352775055e-5
allele num: 120394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000520058
  gene symbol: SREK1
  hgvsc: ENST00000520058.1:n.232-42C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000524111
  gene symbol: SREK1
  hgvsc: ENST00000524111.1:n.203-42C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000334538
  ensembl transcript: ENST00000334121
  gene symbol: SREK1
  hgvsc: ENST00000334121.6:c.162-42C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl transcript: ENST00000523851
  gene symbol: SREK1
  hgvsc: ENST00000523851.1:n.275-42C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428970
  ensembl transcript: ENST00000520953
  gene symbol: SREK1
  hgvsc: ENST00000520953.1:c.67-147C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000428272
  ensembl transcript: ENST00000521691
  gene symbol: SREK1
  hgvsc: ENST00000521691.1:c.-311-42C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000427935
  ensembl transcript: ENST00000522912
  gene symbol: SREK1
  hgvsc: ENST00000522912.1:c.162-42C>A
  variant of: http://identifiers.org/hgnc/17882
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153914
  ensembl protein: ENSP00000370305
  ensembl transcript: ENST00000380918
  gene symbol: SREK1
  hgvsc: ENST00000380918.3:c.-311-42C>A
  variant of: http://identifiers.org/hgnc/17882
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

1-9815195-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815195
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815195
    reference: chr 1
allele count: 1
allele frequency: 8.274720728175424e-6
allele num: 120850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.387C>T
  hgvsp: ENST00000361311.4:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.417C>T
  hgvsp: ENST00000377288.3:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.417C>T
  hgvsp: ENST00000377298.4:c.417C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly139Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

1-9815195-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815195
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815195
    reference: chr 1
allele count: 3
allele frequency: 2.482416218452627e-5
allele num: 120850
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.387C>G
  hgvsp: ENST00000361311.4:c.387C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.417C>G
  hgvsp: ENST00000377288.3:c.417C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.417C>G
  hgvsp: ENST00000377298.4:c.417C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17371
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gly139Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-9815203-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815203
    reference: chr 1
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.409C>A
  hgvsp: ENSP00000366513.4:p.Pro137Thr
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.409C>A
  hgvsp: ENSP00000366502.3:p.Pro137Thr
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.379C>A
  hgvsp: ENSP00000354997.4:p.Pro127Thr
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17370
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4653
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro137Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-9815220-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815220
    reference: chr 1
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.362A>G
  hgvsp: ENSP00000354997.4:p.Tyr121Cys
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.392A>G
  hgvsp: ENSP00000366513.4:p.Tyr131Cys
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.392A>G
  hgvsp: ENSP00000366502.3:p.Tyr131Cys
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12432
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genotype depth: GenotypeDepth
  all individuals: 12240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17369
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr131Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-9815227-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815227
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815227
    reference: chr 1
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.385C>G
  hgvsp: ENSP00000366513.4:p.Gln129Glu
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.385C>G
  hgvsp: ENSP00000366502.3:p.Gln129Glu
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.355C>G
  hgvsp: ENSP00000354997.4:p.Gln119Glu
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17368
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln129Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-9815228-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815228
    reference: chr 1
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.354C>T
  hgvsp: ENST00000361311.4:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.384C>T
  hgvsp: ENST00000377298.4:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.384C>T
  hgvsp: ENST00000377288.3:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6670
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile128Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/1-9815240-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815240
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815240
    reference: chr 1
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.342T>G
  hgvsp: ENSP00000354997.4:p.Tyr114Ter
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.372T>G
  hgvsp: ENSP00000366513.4:p.Tyr124Ter
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.372T>G
  hgvsp: ENSP00000366502.3:p.Tyr124Ter
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12445
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19205
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17366
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3099
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6674
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genotype quality: GenotypeQuality
  all individuals: 4300
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genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr124Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-9815246-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815246
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815246
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.366A>G
  hgvsp: ENST00000377288.3:c.366A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.366A>G
  hgvsp: ENST00000377298.4:c.366A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.336A>G
  hgvsp: ENST00000361311.4:c.336A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12281
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12443
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17366
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys122Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

1-9815257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815257
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815257
    reference: chr 1
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.325G>A
  hgvsp: ENSP00000354997.4:p.Glu109Lys
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.355G>A
  hgvsp: ENSP00000366513.4:p.Glu119Lys
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.355G>A
  hgvsp: ENSP00000366502.3:p.Glu119Lys
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3098
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17367
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Glu119Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

1-9815261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815261
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815261
    reference: chr 1
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.321C>T
  hgvsp: ENST00000361311.4:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.351C>T
  hgvsp: ENST00000377288.3:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.351C>T
  hgvsp: ENST00000377298.4:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2057
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17365
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4657
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp117Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

1-9815273-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9815273
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 9815273
    reference: chr 1
allele count: 4
allele frequency: 3.294784356363876e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366502
  ensembl transcript: ENST00000377288
  gene symbol: CLSTN1
  hgvsc: ENST00000377288.3:c.339A>C
  hgvsp: ENSP00000366502.3:p.Lys113Asn
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000366513
  ensembl transcript: ENST00000377298
  gene symbol: CLSTN1
  hgvsc: ENST00000377298.4:c.339A>C
  hgvsp: ENSP00000366513.4:p.Lys113Asn
  variant of: http://identifiers.org/hgnc/17447
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000171603
  ensembl protein: ENSP00000354997
  ensembl transcript: ENST00000361311
  gene symbol: CLSTN1
  hgvsc: ENST00000361311.4:c.309A>C
  hgvsp: ENSP00000354997.4:p.Lys103Asn
  variant of: http://identifiers.org/hgnc/17447
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17364
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys113Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum

GenotypeQuality
all individuals: 27085
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 668
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7329
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.048437827636821e-4
allele num: 9538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.51e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.12014e5

QD
type: SiteQuality
SIO_000300: 1.078e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 208
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6644
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14830
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.333177788147457e-4
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.345379756133391e-5
allele num: 13614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 5.00933e5

FS
type: SiteQuality
SIO_000300: 2.782e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

QD
type: SiteQuality
SIO_000300: 1.248e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.63e-2

GenotypeQuality
all individuals: 14752
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6669
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.432733759476735e-5
allele num: 13454
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.678e1

QD
type: SiteQuality
SIO_000300: 1.018e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.022e0

VQSLOD
type: SiteQuality
SIO_000300: -3.441e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.56e-2

DP
type: SiteQuality
SIO_000300: 4.94984e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1652
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7670
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.055e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.93e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 3.93747e5

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1718
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7410
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.424778761061947e-3
allele num: 452
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0379e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

DP
type: SiteQuality
SIO_000300: 3.87518e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.18e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.712e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

GenotypeQuality
all individuals: 6493
bin: 6.25e1
variant carriers: 0

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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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 6.41025641025641e-4
allele num: 1560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 3.79601e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.993e0

QD
type: SiteQuality
SIO_000300: 1.426e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.290000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.945e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 737
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 57
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GenotypeQuality
all individuals: 578
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49655791679138e-4
allele num: 6682
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.157e0

DP
type: SiteQuality
SIO_000300: 3.55239e5

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 28662
bin: 7.5e0
variant carriers: 84

GenotypeQuality
all individuals: 613
bin: 1.75e1
variant carriers: 38

GenotypeQuality
all individuals: 1372
bin: 9.75e1
variant carriers: 860

GenotypeQuality
all individuals: 89
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variant carriers: 40

GenotypeQuality
all individuals: 2826
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variant carriers: 3

GenotypeQuality
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variant carriers: 41

GenotypeQuality
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variant carriers: 36

GenotypeQuality
all individuals: 83
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variant carriers: 23

GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 46
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variant carriers: 16

GenotypeQuality
all individuals: 30
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variant carriers: 3

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 230
allele frequency: 3.552672227371022e-2
allele num: 6474
num of homozygotes: 3

African
type: Population
allele count: 7
allele frequency: 5.208333333333333e-3
allele num: 1344
num of homozygotes: 0

South Asian
type: Population
allele count: 495
allele frequency: 6.276946487446107e-2
allele num: 7886
num of homozygotes: 24

East Asian
type: Population
allele count: 12
allele frequency: 1.690140845070422e-2
allele num: 710
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 2.195121951219512e-2
allele num: 410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 39
allele frequency: 2.352231604342581e-2
allele num: 1658
num of homozygotes: 2

Other
type: Population
allele count: 11
allele frequency: 4.824561403508772e-2
allele num: 228
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.43e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

DP
type: SiteQuality
SIO_000300: 3.7489e5

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1987
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 214
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GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.669449081803005e-3
allele num: 1198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.76e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 9.82e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.273e1

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 3.08789e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 167
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 61
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1088
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.165228113440197e-4
allele num: 1622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.611e0

QD
type: SiteQuality
SIO_000300: 1.277e1

DP
type: SiteQuality
SIO_000300: 2.79626e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.89e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

GenotypeQuality
all individuals: 41
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
all individuals: 141
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GenotypeQuality
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GenotypeQuality
all individuals: 220
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GenotypeQuality
all individuals: 5
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7756
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.16e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.7001e5

QD
type: SiteQuality
SIO_000300: 9.42e0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 7122
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GenotypeQuality
all individuals: 10
bin: 4.25e1
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GenotypeQuality
all individuals: 676
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GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 789
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GenotypeQuality
all individuals: 73
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GenotypeQuality
all individuals: 50
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GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 212
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GenotypeQuality
all individuals: 377
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.219409282700422e-3
allele num: 948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 2.40385e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.58e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

FS
type: SiteQuality
SIO_000300: 1.744e0

QD
type: SiteQuality
SIO_000300: 1.302e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

GenotypeQuality
all individuals: 789
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 560
bin: 9.75e1
variant carriers: 18

GenotypeQuality
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bin: 2.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 9.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.355704697986577e-3
allele num: 298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.582278481012658e-2
allele num: 948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.301744337412132e-4
allele num: 7682
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.58e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.744e0

QD
type: SiteQuality
SIO_000300: 1.302e1

DP
type: SiteQuality
SIO_000300: 2.40385e5

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 199
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.304801670146138e-4
allele num: 7664
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5286
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.359999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.17e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.44e-1

FS
type: SiteQuality
SIO_000300: 4.824e0

DP
type: SiteQuality
SIO_000300: 2.26731e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.06e-1

GenotypeQuality
all individuals: 500
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 62
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1462
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.1e0

MQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.883e0

FS
type: SiteQuality
SIO_000300: 6.507e0

QD
type: SiteQuality
SIO_000300: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.92e-2

DP
type: SiteQuality
SIO_000300: 2.24603e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 570
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variant carriers: 30

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 636
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variant carriers: 1

GenotypeQuality
all individuals: 5917
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7660
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 29
allele frequency: 2.138643067846608e-2
allele num: 1356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.803727653100038e-4
allele num: 5258
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.883e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.371e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.402e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 2.22021e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 355
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 151
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GenotypeQuality
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GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 615
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GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 60
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GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 73
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GenotypeQuality
all individuals: 543
bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5212
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.610966057441253e-4
allele num: 7660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.206e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.49e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 2.18702e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 3214
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5757
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 611
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GenotypeQuality
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GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.92975685063682e-4
allele num: 5182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.48e-2

FS
type: SiteQuality
SIO_000300: 3.368e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.464e0

MQ
type: SiteQuality
SIO_000300: 5.839e1

QD
type: SiteQuality
SIO_000300: 1.812e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

DP
type: SiteQuality
SIO_000300: 2.17119e5

VQSLOD
type: SiteQuality
SIO_000300: -1.805e0

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

GenotypeQuality
all individuals: 5554
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variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 61
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GenotypeQuality
all individuals: 168
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GenotypeQuality
all individuals: 56
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.244343891402715e-2
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-2

FS
type: SiteQuality
SIO_000300: 1.166e0

QD
type: SiteQuality
SIO_000300: 1.295e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.673e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

DP
type: SiteQuality
SIO_000300: 2.14667e5

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 421
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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: 478
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.814522938361948e-4
allele num: 7106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
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DP
type: SiteQuality
SIO_000300: 1.97938e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.334e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-1

QD
type: SiteQuality
SIO_000300: 1.958e1

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 242
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 536
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.092050209205021e-4
allele num: 4780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7068
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

DP
type: SiteQuality
SIO_000300: 1.96035e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.198e0

QD
type: SiteQuality
SIO_000300: 6.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.08e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.15e0

GenotypeQuality
all individuals: 286
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 64
bin: 7.25e1
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GenotypeQuality
all individuals: 40
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.059975520195838e-4
allele num: 3268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3384
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 7.18e0

VQSLOD
type: SiteQuality
SIO_000300: -1.711e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.55e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 1.20147e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeQuality
all individuals: 451
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 39
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.955082742316785e-4
allele num: 3384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 7.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.711e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.55e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 1.20147e5

GenotypeQuality
all individuals: 452
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 300
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GenotypeQuality
all individuals: 384
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.073140749846343e-4
allele num: 3254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 2.418379685610641e-3
allele num: 3308
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.062e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

DP
type: SiteQuality
SIO_000300: 1.18443e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

QD
type: SiteQuality
SIO_000300: 1.381e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 993
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variant carriers: 0

GenotypeQuality
all individuals: 151
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variant carriers: 0

GenotypeQuality
all individuals: 111
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variant carriers: 0

GenotypeQuality
all individuals: 1897
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 47
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.813953488372093e-3
allele num: 172
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 9.646302250803859e-3
allele num: 622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2526
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.29e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

DP
type: SiteQuality
SIO_000300: 1.02827e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e-1

GenotypeQuality
all individuals: 4549
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2731
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variant carriers: 0

GenotypeQuality
all individuals: 577
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GenotypeQuality
all individuals: 53
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GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 6372
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.728548710502662e-5
allele num: 57852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

QD
type: SiteQuality
SIO_000300: 1.346e1

FS
type: SiteQuality
SIO_000300: 3.188e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.003039e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 6.46e-1

GenotypeQuality
all individuals: 195
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6498
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3175
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variant carriers: 0

GenotypeQuality
all individuals: 247
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variant carriers: 3

GenotypeQuality
all individuals: 396
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58804
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.935995302407516e-4
allele num: 10218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13990
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 1.058923e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.629e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

GenotypeQuality
all individuals: 210
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 197
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GenotypeQuality
all individuals: 45
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GenotypeQuality
all individuals: 6498
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variant carriers: 0

GenotypeQuality
all individuals: 396
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GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 23
allele frequency: 3.898305084745763e-3
allele num: 5900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 112
allele frequency: 1.904632337936195e-3
allele num: 58804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13990
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.302083333333333e-3
allele num: 768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.125365743866757e-4
allele num: 8886
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.629e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.5e0

DP
type: SiteQuality
SIO_000300: 1.058923e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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: 610
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GenotypeQuality
all individuals: 532
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5998
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7728
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.159e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.447e0

DP
type: SiteQuality
SIO_000300: 1.113423e6

QD
type: SiteQuality
SIO_000300: 1.137e1

MQRankSum
type: SiteQuality
SIO_000300: -2.228e0

FS
type: SiteQuality
SIO_000300: 1.453e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
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GenotypeQuality
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GenotypeQuality
all individuals: 244
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variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.594336915276936e-5
allele num: 62722
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10974
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8262
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15064
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.418e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
SIO_000300: 1.178e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 3.163e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

DP
type: SiteQuality
SIO_000300: 1.283921e6

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: 54
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 241
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GenotypeQuality
all individuals: 3796
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GenotypeQuality
all individuals: 649
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GenotypeQuality
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GenotypeQuality
all individuals: 158
bin: 7.25e1
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GenotypeQuality
all individuals: 199
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.291989664082687e-4
allele num: 7740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.161e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

FS
type: SiteQuality
SIO_000300: 2.801e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.86e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.53685e5

GenotypeQuality
all individuals: 1626
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3377
bin: 2.5e0
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GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5029
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variant carriers: 0

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 204
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 9.708737864077669e-4
allele num: 2060
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.278e0

FS
type: SiteQuality
SIO_000300: 7.755e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 1.475e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.65e-2

DP
type: SiteQuality
SIO_000300: 2.78352e5

MQRankSum
type: SiteQuality
SIO_000300: 2.37e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2066
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6928
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.80522e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.62e-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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GenotypeQuality
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GenotypeQuality
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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: 22

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 4.844961240310077e-4
allele num: 2064
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 9.808729769494851e-4
allele num: 8156
num of homozygotes: 0

South Asian
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allele count: 13
allele frequency: 1.849743881616391e-3
allele num: 7028
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.89e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 2.84318e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.328e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2056
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7126
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 2.88302e5

QD
type: SiteQuality
SIO_000300: 6.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.65e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.331912626531699e-4
allele num: 7508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.517e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.03e0

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.75e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 3.05031e5

FS
type: SiteQuality
SIO_000300: 3.021e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.283e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.93e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.23719e5

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.655493482309125e-4
allele num: 2148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 398
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.93e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-1

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.42e-1

VQSLOD
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.2893e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.683501683501683e-3
allele num: 594
num of homozygotes: 0

African
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num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8706
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
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FS
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 8742
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 414
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Other
type: Population
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African
type: Population
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East Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.72e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2138
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.292526364053187e-4
allele num: 8724
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.417e1

FS
type: SiteQuality
SIO_000300: 4.957e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 3.73751e5

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.56e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: -1.499e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.68e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2088
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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DP
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MQRankSum
type: SiteQuality
SIO_000300: -2.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.08e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 29

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

African
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allele count: 29
allele frequency: 1.540913921360255e-2
allele num: 1882
num of homozygotes: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7856
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.604166666666667e-3
allele num: 384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 3.63751e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.98e-2

VQSLOD
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SIO_000300: 4.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.382e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7294
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6804
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.057e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.57e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

QD
type: SiteQuality
SIO_000300: 1.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.27692e5

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.20011e5

VQSLOD
type: SiteQuality
SIO_000300: -1.51e0

QD
type: SiteQuality
SIO_000300: 1.009e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

FS
type: SiteQuality
SIO_000300: 5.368e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 1514
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 2.083333333333333e-3
allele num: 480
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-2

FS
type: SiteQuality
SIO_000300: 5.368e0

ClippingRankSum
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BaseQRankSum
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MQRankSum
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MQ
type: SiteQuality
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DP
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

Latino
type: Population
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allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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SIO_000300: -7.52e-2

FS
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SIO_000300: 0.0e0

BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele num: 400
num of homozygotes: 0

African
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

European (Finnish)
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Other
type: Population
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num of homozygotes: 0

South Asian
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ReadPosRankSum
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VQSLOD
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MQRankSum
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QD
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MQ
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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East Asian
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Latino
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African
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European (Non-Finnish)
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South Asian
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num of homozygotes: 0

MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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DP
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QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 340
num of homozygotes: 0

Latino
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allele num: 286
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Other
type: Population
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European (Finnish)
type: Population
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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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: 2.346316283435007e-4
allele num: 4262
num of homozygotes: 0

South Asian
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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MQRankSum
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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variant carriers: 1

East Asian
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Other
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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: 11510
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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QD
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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MQRankSum
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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: 6610
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.600803607030028e-5
allele num: 65206
num of homozygotes: 0

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

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

Latino
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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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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.127075546841493e-5
allele num: 65284
num of homozygotes: 0

East Asian
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South Asian
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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DP
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QD
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ReadPosRankSum
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MQ
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GenotypeQuality
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variant carriers: 0

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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African
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allele frequency: 2.897430944562488e-4
allele num: 10354
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Other
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Latino
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East Asian
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MQ
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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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: 6614
num of homozygotes: 0

South Asian
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allele frequency: 6.264879087833605e-5
allele num: 15962
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66464
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East Asian
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Latino
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allele frequency: 1.728011059270779e-4
allele num: 11574
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Other
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VQSLOD
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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African
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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Latino
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African
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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Latino
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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FS
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DP
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VQSLOD
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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African
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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FS
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BaseQRankSum
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ClippingRankSum
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QD
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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Other
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European (Non-Finnish)
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DP
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QD
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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Latino
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African
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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FS
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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South Asian
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European (Finnish)
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Latino
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MQRankSum
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InbreedingCoeff
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QD
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FS
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

African
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East Asian
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European (Non-Finnish)
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South Asian
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Other
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Latino
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European (Finnish)
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ReadPosRankSum
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MQ
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DP
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MQRankSum
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QD
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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South Asian
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Other
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VQSLOD
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FS
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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African
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Other
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East Asian
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South Asian
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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QD
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

Other
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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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East Asian
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South Asian
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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MQRankSum
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VQSLOD
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DP
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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Latino
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South Asian
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East Asian
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European (Finnish)
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African
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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African
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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QD
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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South Asian
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MQRankSum
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QD
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MQ
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FS
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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Latino
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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QD
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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DP
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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South Asian
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Latino
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ClippingRankSum
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