20-62196556-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196556
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196556
    reference: chr 20
allele count: 2
allele frequency: 2.906976744186047e-5
allele num: 68800
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3619C>A
  hgvsp: ENSP00000417401.1:p.Arg1207Ser
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1912C>A
  hgvsp: ENSP00000393257.2:p.Arg638Ser
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18664
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19876
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1207Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 476
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

20-62196556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196556
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196556
    reference: chr 20
allele count: 1
allele frequency: 1.453488372093023e-5
allele num: 68800
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1912C>T
  hgvsp: ENSP00000393257.2:p.Arg638Cys
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3619C>T
  hgvsp: ENSP00000417401.1:p.Arg1207Cys
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19876
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1207Cys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 476
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/20-62196562-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196562
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196562
    reference: chr 20
allele count: 1
allele frequency: 1.420131788229948e-5
allele num: 70416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1906G>T
  hgvsp: ENSP00000393257.2:p.Val636Leu
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3613G>T
  hgvsp: ENSP00000417401.1:p.Val1205Leu
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8462
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
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genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.5e0
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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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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 17845
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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
  all individuals: 1872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1205Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 38964
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

20-62196566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196566
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196566
    reference: chr 20
allele count: 2
allele frequency: 2.815553115409522e-5
allele num: 71034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1902G>A
  hgvsp: ENST00000427522.2:c.1902G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3609G>A
  hgvsp: ENST00000467148.1:c.3609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17044
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1203Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2144
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

20-62196567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196567
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196567
    reference: chr 20
allele count: 4
allele frequency: 5.641589800005642e-5
allele num: 70902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1901C>T
  hgvsp: ENSP00000393257.2:p.Ala634Val
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3608C>T
  hgvsp: ENSP00000417401.1:p.Ala1203Val
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9122
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1203Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.891789632992811e-4
  allele num: 5286
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

20-62196574-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196574
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196574
    reference: chr 20
allele count: 7
allele frequency: 9.717363540451996e-5
allele num: 72036
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3601G>A
  hgvsp: ENSP00000417401.1:p.Glu1201Lys
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1894G>A
  hgvsp: ENSP00000393257.2:p.Glu632Lys
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16142
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9773
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25724
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genotype quality: GenotypeQuality
  all individuals: 115
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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
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1867
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 200
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  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu1201Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 6
  allele frequency: 1.008742434431742e-3
  allele num: 5948
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

20-62196575-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196575
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196575
    reference: chr 20
allele count: 2
allele frequency: 2.763194252555955e-5
allele num: 72380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3600C>T
  hgvsp: ENST00000467148.1:c.3600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1893C>T
  hgvsp: ENST00000427522.2:c.1893C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1265
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21671
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17512
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His1200His
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6204
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

20-62196584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196584
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196584
    reference: chr 20
allele count: 24
allele frequency: 3.26859695475717e-4
allele num: 73426
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3591G>A
  hgvsp: ENST00000467148.1:c.3591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1884G>A
  hgvsp: ENST00000427522.2:c.1884G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14920
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21036
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11131
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  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 559
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 16367
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 594
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genotype quality: GenotypeQuality
  all individuals: 116
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genotype quality: GenotypeQuality
  all individuals: 363
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genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25853
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1197Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 24
  allele frequency: 1.974658548625967e-3
  allele num: 12154
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

20-62196586-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196586
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196586
    reference: chr 20
allele count: 1
allele frequency: 1.360470178493687e-5
allele num: 73504
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3589A>G
  hgvsp: ENSP00000417401.1:p.Arg1197Gly
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1882A>G
  hgvsp: ENSP00000393257.2:p.Arg628Gly
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1197Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6396
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

20-62196595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196595
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196595
    reference: chr 20
allele count: 2
allele frequency: 2.749821261617995e-5
allele num: 72732
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3580G>A
  hgvsp: ENSP00000417401.1:p.Val1194Met
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1873G>A
  hgvsp: ENSP00000393257.2:p.Val625Met
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20569
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
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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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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 303
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genotype quality: GenotypeQuality
  all individuals: 534
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genotype quality: GenotypeQuality
  all individuals: 113
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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: 203
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val1194Met
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5758
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/20-62196600-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196600
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196600
    reference: chr 20
allele count: 25
allele frequency: 3.409896884718206e-4
allele num: 73316
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3575T>G
  hgvsp: ENSP00000417401.1:p.Leu1192Arg
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1868T>G
  hgvsp: ENSP00000393257.2:p.Leu623Arg
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4485
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20349
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
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genotype depth: GenotypeDepth
  all individuals: 2882
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
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  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11779
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 827
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3207
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 533
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 549
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 222
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  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Leu1192Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6530
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

20-62196605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196605
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196605
    reference: chr 20
allele count: 11
allele frequency: 1.521733115679385e-4
allele num: 72286
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3570C>T
  hgvsp: ENST00000467148.1:c.3570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1863C>T
  hgvsp: ENST00000427522.2:c.1863C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20343
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13851
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3553
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4191
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 307
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25295
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1190Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 526
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

20-62196606-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196606
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196606
    reference: chr 20
allele count: 23
allele frequency: 3.182245835408711e-4
allele num: 72276
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3569G>A
  hgvsp: ENSP00000417401.1:p.Arg1190His
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1862G>A
  hgvsp: ENSP00000393257.2:p.Arg621His
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10584
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20294
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13918
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 25305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1190His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12262
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

20-62196610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196610
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196610
    reference: chr 20
allele count: 1
allele frequency: 1.401227475268335e-5
allele num: 71366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3565G>A
  hgvsp: ENSP00000417401.1:p.Gly1189Ser
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1858G>A
  hgvsp: ENSP00000393257.2:p.Gly620Ser
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 283
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly1189Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6540
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

20-62196615-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196615
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196615
    reference: chr 20
allele count: 1
allele frequency: 1.394894685451248e-5
allele num: 71690
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3560T>C
  hgvsp: ENSP00000417401.1:p.Leu1187Pro
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1853T>C
  hgvsp: ENSP00000393257.2:p.Leu618Pro
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1187Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.527805864509606e-5
  allele num: 39560
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

20-62196618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196618
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196618
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 71090
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3557G>A
  hgvsp: ENSP00000417401.1:p.Arg1186Gln
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1850G>A
  hgvsp: ENSP00000393257.2:p.Arg617Gln
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1186Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5084
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

20-62196621-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196621
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196621
    reference: chr 20
allele count: 2
allele frequency: 2.833182230281052e-5
allele num: 70592
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3554G>C
  hgvsp: ENSP00000417401.1:p.Gly1185Ala
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1847G>C
  hgvsp: ENSP00000393257.2:p.Gly616Ala
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14552
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly1185Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12238
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

20-62196625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196625
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196625
    reference: chr 20
allele count: 78
allele frequency: 1.101601559189899e-3
allele num: 70806
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3550G>A
  hgvsp: ENSP00000417401.1:p.Glu1184Lys
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1843G>A
  hgvsp: ENSP00000393257.2:p.Glu615Lys
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9248
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14531
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9198
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4320
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1184Lys
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 4
  allele frequency: 6.029544769369913e-4
  allele num: 6634
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

20-62196626-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196626
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196626
    reference: chr 20
allele count: 10
allele frequency: 1.411432604093155e-4
allele num: 70850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1842C>T
  hgvsp: ENST00000427522.2:c.1842C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3549C>T
  hgvsp: ENST00000467148.1:c.3549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 7.5e0
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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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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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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: 1042
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro1183Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.96927924379677e-4
  allele num: 5078
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

20-62196630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196630
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196630
    reference: chr 20
allele count: 4
allele frequency: 5.602868668758405e-5
allele num: 71392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1838C>T
  hgvsp: ENSP00000393257.2:p.Ala613Val
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3545C>T
  hgvsp: ENSP00000417401.1:p.Ala1182Val
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14522
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6445
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 7.5e0
  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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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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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: 4597
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1182Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.536783358701167e-5
  allele num: 39420
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

20-62196639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196639
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196639
    reference: chr 20
allele count: 1
allele frequency: 1.383240656209367e-5
allele num: 72294
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3536G>A
  hgvsp: ENSP00000417401.1:p.Gly1179Glu
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1829G>A
  hgvsp: ENSP00000393257.2:p.Gly610Glu
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 279
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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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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  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly1179Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2390
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

20-62196642-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196642
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196642
    reference: chr 20
allele count: 1
allele frequency: 1.385578894862273e-5
allele num: 72172
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3533C>A
  hgvsp: ENSP00000417401.1:p.Ser1178Ter
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1826C>A
  hgvsp: ENSP00000393257.2:p.Ser609Ter
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1178Ter
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.512689079853259e-5
  allele num: 39798
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

20-62196648-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196648
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196648
    reference: chr 20
allele count: 970
allele frequency: 1.323256575357416e-2
allele num: 73304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1820T>C
  hgvsp: ENSP00000393257.2:p.Leu607Pro
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3527T>C
  hgvsp: ENSP00000417401.1:p.Leu1176Pro
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11185
  bin: 2.25e1
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 1.25e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 2.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 19544
  bin: 7.5e0
  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 1.75e1
  variant carriers: 347
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23918
  bin: 2.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 10850
  bin: 6.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 9.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 5.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 9.75e1
  variant carriers: 864
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 12
hgvs: p.Leu1176Pro
num of homozygotes: 36
population: Latino
  type: Population
  allele count: 957
  allele frequency: 1.310599835661463e-1
  allele num: 7302
  num of homozygotes: 36
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

20-62196659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196659
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196659
    reference: chr 20
allele count: 16
allele frequency: 2.147708663319821e-4
allele num: 74498
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3516G>A
  hgvsp: ENST00000467148.1:c.3516G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1809G>A
  hgvsp: ENST00000427522.2:c.1809G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19017
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14623
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12031
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11961
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23740
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 325
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genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val1172Val
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 41052
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/20-62196661-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196661
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196661
    reference: chr 20
allele count: 1
allele frequency: 1.333582268690156e-5
allele num: 74986
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3514G>T
  hgvsp: ENSP00000417401.1:p.Val1172Leu
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1807G>T
  hgvsp: ENSP00000393257.2:p.Val603Leu
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14610
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23669
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 599
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val1172Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5124
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

20-62196661-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196661
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196661
    reference: chr 20
allele count: 203
allele frequency: 2.707172005441016e-3
allele num: 74986
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3514G>A
  hgvsp: ENSP00000417401.1:p.Val1172Met
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1807G>A
  hgvsp: ENSP00000393257.2:p.Val603Met
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 1.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 14610
  bin: 1.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18831
  bin: 7.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12246
  bin: 2.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12450
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 9.75e1
  variant carriers: 201
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Val1172Met
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5124
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

20-62196670-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196670
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196670
    reference: chr 20
allele count: 2
allele frequency: 2.659362284924075e-5
allele num: 75206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1798G>C
  hgvsp: ENSP00000393257.2:p.Gly600Arg
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3505G>C
  hgvsp: ENSP00000417401.1:p.Gly1169Arg
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4518
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly1169Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5332
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

20-62196670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196670
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196670
    reference: chr 20
allele count: 1
allele frequency: 1.329681142462038e-5
allele num: 75206
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1798G>A
  hgvsp: ENSP00000393257.2:p.Gly600Arg
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3505G>A
  hgvsp: ENSP00000417401.1:p.Gly1169Arg
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4518
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly1169Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5332
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

20-62196671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196671
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196671
    reference: chr 20
allele count: 1
allele frequency: 1.32471386180585e-5
allele num: 75488
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1797C>T
  hgvsp: ENST00000427522.2:c.1797C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3504C>T
  hgvsp: ENST00000467148.1:c.3504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14553
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18322
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Ala1168Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 542
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

20-62196673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196673
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196673
    reference: chr 20
allele count: 5
allele frequency: 6.591957811470006e-5
allele num: 75850
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3502G>A
  hgvsp: ENSP00000417401.1:p.Ala1168Thr
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1795G>A
  hgvsp: ENSP00000393257.2:p.Ala599Thr
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala1168Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2630
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

20-62196674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196674
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196674
    reference: chr 20
allele count: 1
allele frequency: 1.311028370653941e-5
allele num: 76276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3501C>T
  hgvsp: ENST00000467148.1:c.3501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1794C>T
  hgvsp: ENST00000427522.2:c.1794C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13291
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 7
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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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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: 336
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 780
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genotype quality: GenotypeQuality
  all individuals: 22939
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe1167Phe
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2654
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

20-62196677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196677
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196677
    reference: chr 20
allele count: 100
allele frequency: 1.304223074314631e-3
allele num: 76674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1791C>T
  hgvsp: ENST00000427522.2:c.1791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3498C>T
  hgvsp: ENST00000467148.1:c.3498C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3957
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  variant carriers: 9
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
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  variant carriers: 34
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1166Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 93
  allele frequency: 2.200766718727815e-3
  allele num: 42258
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

20-62196690-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196690
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196690
    reference: chr 20
allele count: 1
allele frequency: 1.279852560984975e-5
allele num: 78134
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1778A>C
  hgvsp: ENSP00000393257.2:p.Asp593Ala
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3485A>C
  hgvsp: ENSP00000417401.1:p.Asp1162Ala
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12852
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14539
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 119
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3583
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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 343
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genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp1162Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5242
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

20-62196691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196691
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196691
    reference: chr 20
allele count: 1
allele frequency: 1.283532280836863e-5
allele num: 77910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1777G>A
  hgvsp: ENSP00000393257.2:p.Asp593Asn
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3484G>A
  hgvsp: ENSP00000417401.1:p.Asp1162Asn
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14574
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4569
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3562
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 4895
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp1162Asn
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5202
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

20-62196709-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196709
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196709
    reference: chr 20
allele count: 2
allele frequency: 2.503692947096968e-5
allele num: 79882
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3466C>G
  hgvsp: ENSP00000417401.1:p.Gln1156Glu
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1759C>G
  hgvsp: ENSP00000393257.2:p.Gln587Glu
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  bin: 9.25e1
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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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genotype quality: GenotypeQuality
  all individuals: 252
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gln1156Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2922
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

20-62196714-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196714
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196714
    reference: chr 20
allele count: 1
allele frequency: 1.249718813267015e-5
allele num: 80018
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3461C>G
  hgvsp: ENSP00000417401.1:p.Pro1154Arg
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1754C>G
  hgvsp: ENSP00000393257.2:p.Pro585Arg
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14162
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro1154Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13238
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-62196718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196718
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196718
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 81172
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3457G>A
  hgvsp: ENSP00000417401.1:p.Gly1153Ser
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1750G>A
  hgvsp: ENSP00000393257.2:p.Gly584Ser
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1255
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  variant carriers: 0
hgvs: p.Gly1153Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8162
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

20-62196719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196719
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196719
    reference: chr 20
allele count: 4
allele frequency: 4.936321453253036e-5
allele num: 81032
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3456G>A
  hgvsp: ENST00000467148.1:c.3456G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1749G>A
  hgvsp: ENST00000427522.2:c.1749G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7471
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4944
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser1152Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5494
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

20-62196720-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196720
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196720
    reference: chr 20
allele count: 245
allele frequency: 2.992549163307683e-3
allele num: 81870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1748C>T
  hgvsp: ENSP00000393257.2:p.Ser583Leu
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3455C>T
  hgvsp: ENSP00000417401.1:p.Ser1152Leu
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13896
  bin: 2.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13711
  bin: 1.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15457
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 1.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14332
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 1.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4392
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3089
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4808
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19770
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 9.75e1
  variant carriers: 230
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.25e1
  variant carriers: 2
hgvs: p.Ser1152Leu
num of homozygotes: 2
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 566
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

20-62196724-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196724
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196724
    reference: chr 20
allele count: 2
allele frequency: 2.407318247472316e-5
allele num: 83080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1744T>C
  hgvsp: ENSP00000393257.2:p.Ser582Pro
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3451T>C
  hgvsp: ENSP00000417401.1:p.Ser1151Pro
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 385
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genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 157
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19484
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser1151Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13474
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

20-62196727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196727
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196727
    reference: chr 20
allele count: 1
allele frequency: 1.197633476250928e-5
allele num: 83498
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3448G>A
  hgvsp: ENSP00000417401.1:p.Ala1150Thr
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1741G>A
  hgvsp: ENSP00000393257.2:p.Ala581Thr
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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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: 14515
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genotype quality: GenotypeQuality
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1150Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3158
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

20-62196730-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196730
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196730
    reference: chr 20
allele count: 1
allele frequency: 1.188636633781053e-5
allele num: 84130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1738G>A
  hgvsp: ENSP00000393257.2:p.Asp580Asn
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3445G>A
  hgvsp: ENSP00000417401.1:p.Asp1149Asn
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp1149Asn
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13584
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

20-62196731-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196731
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196731
    reference: chr 20
allele count: 1
allele frequency: 1.183291918116199e-5
allele num: 84510
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3444C>T
  hgvsp: ENST00000467148.1:c.3444C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1737C>T
  hgvsp: ENST00000427522.2:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
  all individuals: 5857
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2878
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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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genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 432
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genotype quality: GenotypeQuality
  all individuals: 621
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp1148Asp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.139952921035737e-5
  allele num: 46730
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

20-62196734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196734
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196734
    reference: chr 20
allele count: 1
allele frequency: 1.168907071887785e-5
allele num: 85550
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3441G>A
  hgvsp: ENST00000467148.1:c.3441G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1734G>A
  hgvsp: ENST00000427522.2:c.1734G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1147Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6110
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

20-62196737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196737
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196737
    reference: chr 20
allele count: 3
allele frequency: 3.480762983245927e-5
allele num: 86188
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3438G>A
  hgvsp: ENST00000467148.1:c.3438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1731G>A
  hgvsp: ENST00000427522.2:c.1731G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 932
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  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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  bin: 2.5e0
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2651
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genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1146Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 598
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

20-62196738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196738
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196738
    reference: chr 20
allele count: 5
allele frequency: 5.763555883437846e-5
allele num: 86752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1730C>T
  hgvsp: ENSP00000393257.2:p.Pro577Leu
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3437C>T
  hgvsp: ENSP00000417401.1:p.Pro1146Leu
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1146Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 5
  allele frequency: 5.705157462345961e-4
  allele num: 8764
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

20-62196746-TGACGCCCGCTCGAAGGTCTCTGGCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196746
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196721
    reference: chr 20
allele count: 1
allele frequency: 1.122132950311953e-5
allele num: 89116
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsp: ENSP00000417401.1:p.Val1135GlufsTer53
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsp: ENSP00000393257.2:p.Val566GlufsTer53
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val1135GlufsTer53
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3484
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: TGACGCCCGCTCGAAGGTCTCTGGCA
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

20-62196747-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196747
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196747
    reference: chr 20
allele count: 1
allele frequency: 1.118142988125321e-5
allele num: 89434
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3428C>G
  hgvsp: ENSP00000417401.1:p.Ser1143Ter
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1721C>G
  hgvsp: ENSP00000393257.2:p.Ser574Ter
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15810
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1143Ter
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 612
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

20-62196749-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196749
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196749
    reference: chr 20
allele count: 2
allele frequency: 2.224050886284278e-5
allele num: 89926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1719G>C
  hgvsp: ENST00000427522.2:c.1719G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3426G>C
  hgvsp: ENST00000467148.1:c.3426G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21189
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1142Ala
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6494
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

20-62196749-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196749
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196749
    reference: chr 20
allele count: 8
allele frequency: 8.896203545137113e-5
allele num: 89926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1719G>A
  hgvsp: ENST00000427522.2:c.1719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3426G>A
  hgvsp: ENST00000467148.1:c.3426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21189
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7416
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1142Ala
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 616
  num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

20-62196753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196753
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196753
    reference: chr 20
allele count: 1
allele frequency: 1.086059342282462e-5
allele num: 92076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1715G>A
  hgvsp: ENSP00000393257.2:p.Arg572Gln
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3422G>A
  hgvsp: ENSP00000417401.1:p.Arg1141Gln
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1141Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3662
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

20-62196754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196754
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196754
    reference: chr 20
allele count: 3
allele frequency: 3.234082921886117e-5
allele num: 92762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3421C>T
  hgvsp: ENSP00000417401.1:p.Arg1141Trp
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1714C>T
  hgvsp: ENSP00000393257.2:p.Arg572Trp
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8230
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
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genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3251
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11016
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13667
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg1141Trp
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 640
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

20-62196758-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196758
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196758
    reference: chr 20
allele count: 1
allele frequency: 1.045959458611384e-5
allele num: 95606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1710C>A
  hgvsp: ENSP00000393257.2:p.Phe570Leu
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3417C>A
  hgvsp: ENSP00000417401.1:p.Phe1139Leu
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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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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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe1139Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6868
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

20-62196766-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196766
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196766
    reference: chr 20
allele count: 1
allele frequency: 1.010223461429668e-5
allele num: 98988
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3409G>C
  hgvsp: ENSP00000417401.1:p.Glu1137Gln
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1702G>C
  hgvsp: ENSP00000393257.2:p.Glu568Gln
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4602
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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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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu1137Gln
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10122
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

20-62196766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196766
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196766
    reference: chr 20
allele count: 2
allele frequency: 2.020446922859336e-5
allele num: 98988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1702G>A
  hgvsp: ENSP00000393257.2:p.Glu568Lys
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3409G>A
  hgvsp: ENSP00000417401.1:p.Glu1137Lys
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  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: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31697
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu1137Lys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 54356
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

20-62196769-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196769
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196769
    reference: chr 20
allele count: 1
allele frequency: 1.003029148027042e-5
allele num: 99698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1699C>A
  hgvsp: ENSP00000393257.2:p.Pro567Thr
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3406C>A
  hgvsp: ENSP00000417401.1:p.Pro1136Thr
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
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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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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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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
hgvs: p.Pro1136Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 54744
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

20-62196773-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196773
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196773
    reference: chr 20
allele count: 6
allele frequency: 5.955689668863655e-5
allele num: 100744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1695C>T
  hgvsp: ENST00000427522.2:c.1695C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3402C>T
  hgvsp: ENST00000467148.1:c.3402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe1134Phe
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.808383666678723e-5
  allele num: 55298
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

20-62196773-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196773
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196773
    reference: chr 20
allele count: 1
allele frequency: 9.926149448106091e-6
allele num: 100744
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3402C>A
  hgvsp: ENSP00000417401.1:p.Phe1134Leu
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1695C>A
  hgvsp: ENSP00000393257.2:p.Phe565Leu
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 2851
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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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: 390
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  variant carriers: 0
hgvs: p.Phe1134Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7350
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

20-62196774-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196774
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196774
    reference: chr 20
allele count: 1
allele frequency: 9.887089438611062e-6
allele num: 101142
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3401T>C
  hgvsp: ENSP00000417401.1:p.Phe1134Ser
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1694T>C
  hgvsp: ENSP00000393257.2:p.Phe565Ser
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe1134Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.802061558422836e-5
  allele num: 55492
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/20-62196786-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196786
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196786
    reference: chr 20
allele count: 2
allele frequency: 1.96336363457876e-5
allele num: 101866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1682G>T
  hgvsp: ENSP00000393257.2:p.Arg561Leu
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3389G>T
  hgvsp: ENSP00000417401.1:p.Arg1130Leu
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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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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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: 1940
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1130Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4424
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

20-62196786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196786
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196786
    reference: chr 20
allele count: 4
allele frequency: 3.926727269157521e-5
allele num: 101866
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3389G>A
  hgvsp: ENSP00000417401.1:p.Arg1130His
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1682G>A
  hgvsp: ENSP00000393257.2:p.Arg561His
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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hgvs: p.Arg1130His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7696
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ

20-62196787-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196787
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196787
    reference: chr 20
allele count: 2
allele frequency: 1.956908866754075e-5
allele num: 102202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1681C>T
  hgvsp: ENSP00000393257.2:p.Arg561Cys
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3388C>T
  hgvsp: ENSP00000417401.1:p.Arg1130Cys
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg1130Cys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.577049649449134e-5
  allele num: 55912
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

20-62196788-GTAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196788
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196785
    reference: chr 20
allele count: 2
allele frequency: 1.954461057363432e-5
allele num: 102330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1677_1679delGTA
  hgvsp: ENSP00000393257.2:p.Tyr560del
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3384_3386delGTA
  hgvsp: ENSP00000417401.1:p.Tyr1129del
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr1129del
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4472
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: GTAC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-62196792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196792
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196792
    reference: chr 20
allele count: 22
allele frequency: 2.140494259583577e-4
allele num: 102780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1676G>A
  hgvsp: ENSP00000393257.2:p.Arg559Gln
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3383G>A
  hgvsp: ENSP00000417401.1:p.Arg1128Gln
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28937
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  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 349
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Arg1128Gln
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 690
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

20-62196793-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196793
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196793
    reference: chr 20
allele count: 16
allele frequency: 1.554303477754031e-4
allele num: 102940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1675C>T
  hgvsp: ENSP00000393257.2:p.Arg559Trp
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3382C>T
  hgvsp: ENSP00000417401.1:p.Arg1128Trp
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29018
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11110
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 164
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4029
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6870
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
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genotype quality: GenotypeQuality
  all individuals: 356
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 293
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genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1128Trp
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4558
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

20-62196796-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196796
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196796
    reference: chr 20
allele count: 1
allele frequency: 9.705534095541278e-6
allele num: 103034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1672G>C
  hgvsp: ENSP00000393257.2:p.Glu558Gln
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3379G>C
  hgvsp: ENSP00000417401.1:p.Glu1127Gln
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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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: 1
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1127Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4562
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum

20-62196796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196796
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196796
    reference: chr 20
allele count: 3
allele frequency: 2.911660228662383e-5
allele num: 103034
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3379G>A
  hgvsp: ENSP00000417401.1:p.Glu1127Lys
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1672G>A
  hgvsp: ENSP00000393257.2:p.Glu558Lys
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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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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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Glu1127Lys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.552650277106722e-5
  allele num: 56296
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

20-62196797-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196797
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196797
    reference: chr 20
allele count: 3
allele frequency: 2.903038513644281e-5
allele num: 103340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1671C>G
  hgvsp: ENST00000427522.2:c.1671C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3378C>G
  hgvsp: ENST00000467148.1:c.3378C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28710
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 3.25e1
  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: 172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5391
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro1126Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 5.311426649197975e-5
  allele num: 56482
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-62196800-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196800
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196800
    reference: chr 20
allele count: 2
allele frequency: 1.937458828999884e-5
allele num: 103228
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3375G>T
  hgvsp: ENSP00000417401.1:p.Glu1125Asp
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1668G>T
  hgvsp: ENSP00000393257.2:p.Glu556Asp
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12173
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28054
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5868
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 628
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 984
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 420
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genotype quality: GenotypeQuality
  all individuals: 382
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 328
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 3.25e1
  variant carriers: 2
hgvs: p.Glu1125Asp
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15630
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

20-62196800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196800
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196800
    reference: chr 20
allele count: 1
allele frequency: 9.68729414499942e-6
allele num: 103228
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3375G>A
  hgvsp: ENST00000467148.1:c.3375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1668G>A
  hgvsp: ENST00000427522.2:c.1668G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1208
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genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.5e0
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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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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: 382
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  variant carriers: 0
hgvs: p.Glu1125Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7494
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

20-62196803-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196803
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196803
    reference: chr 20
allele count: 2
allele frequency: 1.914865097753863e-5
allele num: 104446
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3372G>A
  hgvsp: ENST00000467148.1:c.3372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1665G>A
  hgvsp: ENST00000427522.2:c.1665G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27991
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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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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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 381
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala1124Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4872
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

20-62196804-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196804
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196804
    reference: chr 20
allele count: 4
allele frequency: 3.826140189776553e-5
allele num: 104544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1664C>T
  hgvsp: ENSP00000393257.2:p.Ala555Val
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3371C>T
  hgvsp: ENSP00000417401.1:p.Ala1124Val
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12776
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27972
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5635
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 29120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1124Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10702
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

20-62196805-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196805
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196805
    reference: chr 20
allele count: 3
allele frequency: 2.8616124232134e-5
allele num: 104836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1663G>A
  hgvsp: ENSP00000393257.2:p.Ala555Thr
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3370G>A
  hgvsp: ENSP00000417401.1:p.Ala1124Thr
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27978
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala1124Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4920
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-62196806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196806
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196806
    reference: chr 20
allele count: 6
allele frequency: 5.707762557077625e-5
allele num: 105120
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3369C>T
  hgvsp: ENST00000467148.1:c.3369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1662C>T
  hgvsp: ENST00000427522.2:c.1662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28057
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13183
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5610
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 444
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genotype quality: GenotypeQuality
  all individuals: 651
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 30482
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His1123His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 6.980559142787338e-5
  allele num: 57302
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

20-62196807-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196807
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196807
    reference: chr 20
allele count: 107607
allele frequency: 9.664026295937063e-1
allele num: 111348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1661A>G
  hgvsp: ENSP00000393257.2:p.His554Arg
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3368A>G
  hgvsp: ENSP00000417401.1:p.His1123Arg
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 7.5e0
  variant carriers: 2483
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.25e1
  variant carriers: 807
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 3.75e1
  variant carriers: 6764
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 638
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.5e0
  variant carriers: 813
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 1.25e1
  variant carriers: 3058
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 1178
genotype depth: GenotypeDepth
  all individuals: 8663
  bin: 2.75e1
  variant carriers: 8644
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 2.25e1
  variant carriers: 7131
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.75e1
  variant carriers: 503
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 1.75e1
  variant carriers: 4709
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 5.25e1
  variant carriers: 1862
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 489
genotype depth: GenotypeDepth
  all individuals: 8444
  bin: 3.25e1
  variant carriers: 8435
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 8.75e1
  variant carriers: 471
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.25e1
  variant carriers: 383
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 4.75e1
  variant carriers: 2971
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 4.25e1
  variant carriers: 4873
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 558
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 9.75e1
  variant carriers: 2166
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 3.25e1
  variant carriers: 1040
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.25e1
  variant carriers: 748
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 1159
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 1507
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 7.75e1
  variant carriers: 3044
genotype quality: GenotypeQuality
  all individuals: 30081
  bin: 9.75e1
  variant carriers: 30081
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 2.25e1
  variant carriers: 962
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 8.75e1
  variant carriers: 1804
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 1.75e1
  variant carriers: 961
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.25e1
  variant carriers: 440
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.5e0
  variant carriers: 405
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.75e1
  variant carriers: 587
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 1702
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 6.25e1
  variant carriers: 2333
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 5.75e1
  variant carriers: 1186
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 9.25e1
  variant carriers: 3090
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 8.25e1
  variant carriers: 3312
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 5.25e1
  variant carriers: 1875
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 6.75e1
  variant carriers: 2684
hgvs: p.His1123Arg
num of homozygotes: 52030
population: African
  type: Population
  allele count: 8473
  allele frequency: 9.914579920430611e-1
  allele num: 8546
  num of homozygotes: 4200
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

20-62196808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196808
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196808
    reference: chr 20
allele count: 18
allele frequency: 1.636006689449575e-4
allele num: 110024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1660C>T
  hgvsp: ENSP00000393257.2:p.His554Tyr
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3367C>T
  hgvsp: ENSP00000417401.1:p.His1123Tyr
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13118
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9550
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11095
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His1123Tyr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8296
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

20-62196815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62196815
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62196815
    reference: chr 20
allele count: 1
allele frequency: 9.080507781995169e-6
allele num: 110126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.1653G>A
  hgvsp: ENST00000427522.2:c.1653G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.3360G>A
  hgvsp: ENST00000467148.1:c.3360G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 15333
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11075
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys1120Lys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 59764
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2040
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.785714285714286e-4
allele num: 5600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.630056283204461e-5
allele num: 38022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.843e1

QD
type: SiteQuality
SIO_000300: 2.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

DP
type: SiteQuality
SIO_000300: 9.01446e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.243e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.630056283204461e-5
allele num: 38022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5838
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.243e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

DP
type: SiteQuality
SIO_000300: 9.01446e5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.904761904761905e-4
allele num: 5250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5854
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.215e0

VQSLOD
type: SiteQuality
SIO_000300: -9.238e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 8.98287e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

FS
type: SiteQuality
SIO_000300: 5.497e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

QD
type: SiteQuality
SIO_000300: 7.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 1
allele frequency: 1.686340640809444e-4
allele num: 5930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.882530120481928e-4
allele num: 5312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11914
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

DP
type: SiteQuality
SIO_000300: 8.98899e5

FS
type: SiteQuality
SIO_000300: 1.713e0

QD
type: SiteQuality
SIO_000300: 1.013e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11894
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 3.369272237196766e-4
allele num: 5936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.549069589599796e-5
allele num: 39230
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

QD
type: SiteQuality
SIO_000300: 1.23e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

FS
type: SiteQuality
SIO_000300: 5.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

DP
type: SiteQuality
SIO_000300: 8.95343e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.619170984455959e-4
allele num: 6176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12012
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

FS
type: SiteQuality
SIO_000300: 4.201e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 8.94121e5

QD
type: SiteQuality
SIO_000300: 1.258e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12036
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.99001996007984e-5
allele num: 40080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.96574e5

FS
type: SiteQuality
SIO_000300: 7.773e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 8.87179e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.452663592661631e-5
allele num: 40772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12162
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.080000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

FS
type: SiteQuality
SIO_000300: 1.344e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.80682e5

QD
type: SiteQuality
SIO_000300: 1.331e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5360
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.970178926441352e-5
allele num: 40240
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.031e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.064e0

DP
type: SiteQuality
SIO_000300: 8.54505e5

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2268
num of homozygotes: 0

East Asian
type: Population
allele count: 25
allele frequency: 4.631344942571323e-3
allele num: 5398
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FS
type: SiteQuality
SIO_000300: 3.258e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

QD
type: SiteQuality
SIO_000300: 9.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 8.51836e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

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: 5326
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5452
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South Asian
type: Population
allele count: 1
allele frequency: 8.148631029986962e-5
allele num: 12272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
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European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.506014434643144e-4
allele num: 39904
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.34595e5

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

QD
type: SiteQuality
SIO_000300: 1.1e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

African
type: Population
allele count: 18
allele frequency: 3.290676416819013e-3
allele num: 5470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5316
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European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.252003205128205e-4
allele num: 39936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2254
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.35e-1

DP
type: SiteQuality
SIO_000300: 8.33657e5

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

FS
type: SiteQuality
SIO_000300: 2.478e0

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.535882740782066e-5
allele num: 39434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5172
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5238
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12234
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2228
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.299999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.298e0

DP
type: SiteQuality
SIO_000300: 8.19071e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.263e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

QD
type: SiteQuality
SIO_000300: 7.52e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

DP
type: SiteQuality
SIO_000300: 8.16792e5

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

VQSLOD
type: SiteQuality
SIO_000300: -1.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

QD
type: SiteQuality
SIO_000300: 7.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2282
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 8.10777e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5100
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Latino
type: Population
allele count: 1
allele frequency: 1.520681265206813e-4
allele num: 6576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2282
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.02757502027575e-4
allele num: 4932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38948
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 3.053e0

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.09e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.07798e5

QD
type: SiteQuality
SIO_000300: 1.261e1

African
type: Population
allele count: 1
allele frequency: 2.028397565922921e-4
allele num: 4930
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 1.142857142857143e-3
allele num: 12250
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 4
allele frequency: 1.739130434782609e-3
allele num: 2300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 55
allele frequency: 1.407729715894548e-3
allele num: 39070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5108
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 8.11081e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

QD
type: SiteQuality
SIO_000300: 1.28e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

African
type: Population
allele count: 6
allele frequency: 1.212121212121212e-3
allele num: 4950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.110123153968011e-5
allele num: 39138
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
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South Asian
type: Population
allele count: 1
allele frequency: 8.175277959450622e-5
allele num: 12232
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.17e-1

QD
type: SiteQuality
SIO_000300: 2.611e1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.33e-1

DP
type: SiteQuality
SIO_000300: 8.1211e5

Latino
type: Population
allele count: 1
allele frequency: 1.494768310911809e-4
allele num: 6690
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.622849724115547e-4
allele num: 12324
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4978
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
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FS
type: SiteQuality
SIO_000300: 1.283e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

DP
type: SiteQuality
SIO_000300: 8.1609e5

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5020
num of homozygotes: 0

Latino
type: Population
allele count: 0
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South Asian
type: Population
allele count: 1
allele frequency: 8.060615831049492e-5
allele num: 12406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 1.4553e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

QD
type: SiteQuality
SIO_000300: 1.233e1

VQSLOD
type: SiteQuality
SIO_000300: -1.012e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

DP
type: SiteQuality
SIO_000300: 8.20181e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
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allele num: 5024
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2388
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 6886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12384
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MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.73e-1

FS
type: SiteQuality
SIO_000300: 2.2249e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.694e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.812e0

QD
type: SiteQuality
SIO_000300: 7.96e0

DP
type: SiteQuality
SIO_000300: 8.22346e5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.488021427508556e-4
allele num: 40322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2424
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.957261574990107e-4
allele num: 5054
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 9.398496240601503e-3
allele num: 532
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.467e1

DP
type: SiteQuality
SIO_000300: 8.30737e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.31e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

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

African
type: Population
allele count: 16
allele frequency: 3.134796238244514e-3
allele num: 5104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2504
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.39412e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.408e0

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

FS
type: SiteQuality
SIO_000300: 1.0253e1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2560
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.875468867216804e-4
allele num: 5332
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12590
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.42681e5

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.14e0

QD
type: SiteQuality
SIO_000300: 1.202e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5332
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 2.254641909814324e-3
allele num: 7540
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.177124702144559e-4
allele num: 12590
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European (Non-Finnish)
type: Population
allele count: 162
allele frequency: 3.923278116826504e-3
allele num: 41292
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.824817518248175e-3
allele num: 548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 19
allele frequency: 7.421875e-3
allele num: 2560
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

DP
type: SiteQuality
SIO_000300: 8.42681e5

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

QD
type: SiteQuality
SIO_000300: 1.202e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7586
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South Asian
type: Population
allele count: 2
allele frequency: 1.582779360557138e-4
allele num: 12636
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5094
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41414
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

QD
type: SiteQuality
SIO_000300: 2.075e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

DP
type: SiteQuality
SIO_000300: 8.50339e5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5094
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.913896802785692e-5
allele num: 12636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41414
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

QD
type: SiteQuality
SIO_000300: 2.075e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

DP
type: SiteQuality
SIO_000300: 8.50339e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5126
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South Asian
type: Population
allele count: 1
allele frequency: 7.886435331230284e-5
allele num: 12680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2596
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.263e0

DP
type: SiteQuality
SIO_000300: 8.5296e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.780800305971219e-5
allele num: 41834
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12714
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 5.886970172684458e-4
allele num: 5096
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5392
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

QD
type: SiteQuality
SIO_000300: 8.99e0

DP
type: SiteQuality
SIO_000300: 8.54616e5

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.723e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.485e0

VQSLOD
type: SiteQuality
SIO_000300: 2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.377216754623687e-5
allele num: 42066
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12760
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

QD
type: SiteQuality
SIO_000300: 1.169e1

MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 8.59777e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

FS
type: SiteQuality
SIO_000300: 9.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.938735944164405e-4
allele num: 5158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2672
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 7.739938080495357e-4
allele num: 7752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12822
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QD
type: SiteQuality
SIO_000300: 1.205e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

DP
type: SiteQuality
SIO_000300: 8.65115e5

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.319862664130283e-5
allele num: 43106
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2800
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

FS
type: SiteQuality
SIO_000300: 4.419e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.404e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.6863e5

QD
type: SiteQuality
SIO_000300: 5.56e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43006
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.71366862079605e-5
allele num: 12964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2776
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-1

QD
type: SiteQuality
SIO_000300: 1.468e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.234e0

MQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.66253e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.720238095238095e-4
allele num: 5376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
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MQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e-1

DP
type: SiteQuality
SIO_000300: 8.80008e5

QD
type: SiteQuality
SIO_000300: 8.81e0

FS
type: SiteQuality
SIO_000300: 3.012e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.672e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5686
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.263057843758486e-5
allele num: 44188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2924
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
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MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 3.452e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

QD
type: SiteQuality
SIO_000300: 1.591e1

MQ
type: SiteQuality
SIO_000300: 5.875e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.084e0

DP
type: SiteQuality
SIO_000300: 8.85718e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44844
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5798
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.155e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.65e-1

DP
type: SiteQuality
SIO_000300: 8.93865e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

QD
type: SiteQuality
SIO_000300: 1.049e1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13334
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.226692836113837e-4
allele num: 8152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.70630840076899e-5
allele num: 44734
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.67e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.67e-1

DP
type: SiteQuality
SIO_000300: 8.98847e5

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.851515822084532e-5
allele num: 45190
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 1.339503166098393e-3
allele num: 8212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5810
num of homozygotes: 0

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

African
type: Population
allele count: 229
allele frequency: 4.026019690576653e-2
allele num: 5688
num of homozygotes: 2

South Asian
type: Population
allele count: 1
allele frequency: 7.481669908723627e-5
allele num: 13366
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.10004e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.327e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3102
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.37609723160027e-4
allele num: 5924
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 45882
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InbreedingCoeff
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SIO_000300: -7.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 4.234e0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.51e1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 9.24002e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5816
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.168632893823733e-5
allele num: 46112
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 5938
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.04e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.53e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 9.31484e5

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5858
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8416
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5990
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.149613069647463e-5
allele num: 46520
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European (Finnish)
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allele frequency: 0.0e0
allele num: 3178
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

DP
type: SiteQuality
SIO_000300: 9.44971e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.461e0

QD
type: SiteQuality
SIO_000300: 1.154e1

East Asian
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allele num: 6038
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South Asian
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allele frequency: 0.0e0
allele num: 13600
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8444
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 5898
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3216
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

FS
type: SiteQuality
SIO_000300: 1.989e0

DP
type: SiteQuality
SIO_000300: 9.51922e5

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.286e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

South Asian
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allele frequency: 7.295010213014298e-5
allele num: 13708
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3276
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African
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47298
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DP
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SIO_000300: 9.68879e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e0

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.336e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.283e1

South Asian
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allele count: 2
allele frequency: 1.452854859799506e-4
allele num: 13766
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6184
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3296
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.09881207236704e-5
allele num: 47646
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Latino
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allele num: 8644
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QD
type: SiteQuality
SIO_000300: 9.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

FS
type: SiteQuality
SIO_000300: 5.115e0

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.83539e5

East Asian
type: Population
allele count: 0
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allele num: 6220
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3318
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47936
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African
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South Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

FS
type: SiteQuality
SIO_000300: 1.4293e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.92847e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -1.901e0

QD
type: SiteQuality
SIO_000300: 1.328e1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14086
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.031942130288129e-5
allele num: 49214
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East Asian
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allele count: 0
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African
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Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 612
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 5.187e1

DP
type: SiteQuality
SIO_000300: 1.025526e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.592e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.024783348181745e-5
allele num: 49388
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 6314
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
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South Asian
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 1.031529e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.68e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

VQSLOD
type: SiteQuality
SIO_000300: -1.46e0

QD
type: SiteQuality
SIO_000300: 1.092e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.562e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

African
type: Population
allele count: 2
allele frequency: 3.151591553734636e-4
allele num: 6346
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Other
type: Population
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allele frequency: 0.0e0
allele num: 616
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49662
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South Asian
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allele num: 14184
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9102
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3522
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DP
type: SiteQuality
SIO_000300: 1.042306e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

FS
type: SiteQuality
SIO_000300: 1.427e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

East Asian
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allele count: 0
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allele num: 6494
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South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 6346
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3522
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 4.394638540980005e-4
allele num: 9102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.054448068946075e-5
allele num: 49662
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.427e0

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

DP
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SIO_000300: 1.042306e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.819e0

Latino
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allele num: 9366
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East Asian
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African
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Other
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.96927924379677e-5
allele num: 50780
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.086e0

MQRankSum
type: SiteQuality
SIO_000300: 8.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

DP
type: SiteQuality
SIO_000300: 1.079249e6

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14460
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3696
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Latino
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East Asian
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allele count: 0
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African
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allele count: 1
allele frequency: 1.520218911523259e-4
allele num: 6578
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.908998514580564e-5
allele num: 51164
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.862e-1

FS
type: SiteQuality
SIO_000300: 6.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.01e-1

DP
type: SiteQuality
SIO_000300: 1.093846e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.898181542082685e-5
allele num: 52682
num of homozygotes: 0

East Asian
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allele count: 0
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Latino
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allele count: 0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3878
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

DP
type: SiteQuality
SIO_000300: 1.135616e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.32e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.37e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.839723305614835e-5
allele num: 54356
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4168
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African
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South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

FS
type: SiteQuality
SIO_000300: 4.162e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-1

DP
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SIO_000300: 1.180838e6

African
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allele count: 0
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South Asian
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allele count: 2
allele frequency: 1.325556733828208e-4
allele num: 15088
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Other
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7382
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4168
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

FS
type: SiteQuality
SIO_000300: 4.162e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

DP
type: SiteQuality
SIO_000300: 1.180838e6

QD
type: SiteQuality
SIO_000300: 1.269e1

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.495e0

Latino
type: Population
allele count: 1
allele frequency: 9.827044025157233e-5
allele num: 10176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4246
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15160
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.686e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-2

FS
type: SiteQuality
SIO_000300: 5.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 1.15e1

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.190058e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.620545073375262e-4
allele num: 15264
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.723842862699339e-5
allele num: 10284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7528
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

FS
type: SiteQuality
SIO_000300: 2.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

DP
type: SiteQuality
SIO_000300: 1.20632e6

East Asian
type: Population
allele count: 1
allele frequency: 1.328374070138151e-4
allele num: 7528
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55298
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 1.20632e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

FS
type: SiteQuality
SIO_000300: 2.68e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15312
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.429e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.209401e6

FS
type: SiteQuality
SIO_000300: 5.036e0

QD
type: SiteQuality
SIO_000300: 7.4e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15468
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.586671927118826e-5
allele num: 55762
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

FS
type: SiteQuality
SIO_000300: 4.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.278e0

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

DP
type: SiteQuality
SIO_000300: 1.219835e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10494
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.292991983449703e-4
allele num: 15468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.260397830018083e-4
allele num: 4424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.793335963559413e-5
allele num: 55762
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.278e0

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

FS
type: SiteQuality
SIO_000300: 4.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

DP
type: SiteQuality
SIO_000300: 1.219835e6

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10534
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.829e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.434e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-2

FS
type: SiteQuality
SIO_000300: 9.404e0

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.38e-1

DP
type: SiteQuality
SIO_000300: 1.22108e6

QD
type: SiteQuality
SIO_000300: 8.19e0

Latino
type: Population
allele count: 2
allele frequency: 1.89897455374098e-4
allele num: 10532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55972
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

DP
type: SiteQuality
SIO_000300: 1.222791e6

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

QD
type: SiteQuality
SIO_000300: 1.401e1

FS
type: SiteQuality
SIO_000300: 1.801e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.171e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

South Asian
type: Population
allele count: 19
allele frequency: 1.219825372367745e-3
allele num: 15576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.674511901577962e-4
allele num: 7478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.77954941808734e-5
allele num: 56194
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

DP
type: SiteQuality
SIO_000300: 1.227897e6

QD
type: SiteQuality
SIO_000300: 1.127e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

East Asian
type: Population
allele count: 1
allele frequency: 1.290322580645161e-4
allele num: 7750
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.332977872567315e-3
allele num: 7502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.332954101041704e-5
allele num: 56254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15594
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.888574126534466e-4
allele num: 10590
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

DP
type: SiteQuality
SIO_000300: 1.232025e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.776325138553361e-5
allele num: 56296
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15622
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7470
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 1.237695e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

QD
type: SiteQuality
SIO_000300: 1.245e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.285677552069941e-4
allele num: 7778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15622
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.237695e6

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15628
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.3e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 6.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

DP
type: SiteQuality
SIO_000300: 1.241032e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.25e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

FS
type: SiteQuality
SIO_000300: 5.775e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.79e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.772672481032404e-5
allele num: 56412
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.334400854016547e-4
allele num: 7494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4576
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10632
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

QD
type: SiteQuality
SIO_000300: 4.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.856e0

VQSLOD
type: SiteQuality
SIO_000300: -9.253e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 2.921e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.253842e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.772672481032404e-5
allele num: 56412
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 4.83e0

FS
type: SiteQuality
SIO_000300: 2.921e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -9.253e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.856e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

DP
type: SiteQuality
SIO_000300: 1.253842e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7838
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.274372371606984e-4
allele num: 15694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10694
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57000
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

DP
type: SiteQuality
SIO_000300: 1.264469e6

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

FS
type: SiteQuality
SIO_000300: 8.433e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

QD
type: SiteQuality
SIO_000300: 1.133e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.257807844649304e-5
allele num: 57058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4868
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.369426751592356e-5
allele num: 15700
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 1.268047e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 1.751e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 708
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.361323155216285e-5
allele num: 15720
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.496870301080533e-5
allele num: 57194
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-1

DP
type: SiteQuality
SIO_000300: 1.273307e6

QD
type: SiteQuality
SIO_000300: 1.311e1

FS
type: SiteQuality
SIO_000300: 5.87e0

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

Latino
type: Population
allele count: 1
allele frequency: 9.310986964618249e-5
allele num: 10740
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.289656951250967e-4
allele num: 7754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4954
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

FS
type: SiteQuality
SIO_000300: 4.1e-1

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

DP
type: SiteQuality
SIO_000300: 1.279241e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

Other
type: Population
allele count: 758
allele frequency: 9.69309462915601e-1
allele num: 782
num of homozygotes: 369

East Asian
type: Population
allele count: 8237
allele frequency: 9.993933511283669e-1
allele num: 8242
num of homozygotes: 4116

South Asian
type: Population
allele count: 16266
allele frequency: 9.971799901912702e-1
allele num: 16312
num of homozygotes: 8110

European (Finnish)
type: Population
allele count: 5282
allele frequency: 8.967741935483871e-1
allele num: 5890
num of homozygotes: 2362

European (Non-Finnish)
type: Population
allele count: 57545
allele frequency: 9.531420810282571e-1
allele num: 60374
num of homozygotes: 27428

Latino
type: Population
allele count: 11046
allele frequency: 9.86073915372255e-1
allele num: 11202
num of homozygotes: 5445

FS
type: SiteQuality
SIO_000300: 5.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

DP
type: SiteQuality
SIO_000300: 2.102399e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.97e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 3.193e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.02411575562701e-5
allele num: 59712
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.267268009390832e-4
allele num: 16186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

FS
type: SiteQuality
SIO_000300: 4.063e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

DP
type: SiteQuality
SIO_000300: 1.767028e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.104e1

African
type: Population
allele count: 1
allele frequency: 1.200768491834774e-4
allele num: 8328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5788
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.704e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1