20-62192521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192521
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192521
    reference: chr 20
allele count: 3
allele frequency: 2.4933925098489e-5
allele num: 120318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.229G>A
  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.5353G>A
  hgvsp: ENSP00000393257.2:p.Val1785Met
  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.7060G>A
  hgvsp: ENSP00000417401.1:p.Val2354Met
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36235
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val2354Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

20-62192521-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192521
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192521
    reference: chr 20
allele count: 4
allele frequency: 3.324523346465201e-5
allele num: 120318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.229G>C
  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.5353G>C
  hgvsp: ENSP00000393257.2:p.Val1785Leu
  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.7060G>C
  hgvsp: ENSP00000417401.1:p.Val2354Leu
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36235
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val2354Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

20-62192522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192522
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192522
    reference: chr 20
allele count: 1
allele frequency: 8.310755780130645e-6
allele num: 120326
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.5352C>T
  hgvsp: ENST00000427522.2:c.5352C>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.7059C>T
  hgvsp: ENST00000467148.1:c.7059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.228C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp2353Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

20-62192540-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192540
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192540
    reference: chr 20
allele count: 1
allele frequency: 8.310341388824253e-6
allele num: 120332
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.5334C>T
  hgvsp: ENST00000427522.2:c.5334C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.210C>T
  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.7041C>T
  hgvsp: ENST00000467148.1:c.7041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36231
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala2347Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/20-62192560-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192560
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192560
    reference: chr 20
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
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.5314T>G
  hgvsp: ENSP00000393257.2:p.Cys1772Gly
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.190T>G
  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.7021T>G
  hgvsp: ENSP00000417401.1:p.Cys2341Gly
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys2341Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

20-62192571-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192571
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192571
    reference: chr 20
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.179T>A
  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.7010T>A
  hgvsp: ENSP00000417401.1:p.Ile2337Asn
  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.5303T>A
  hgvsp: ENSP00000393257.2:p.Ile1768Asn
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile2337Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

20-62192580-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192580
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192580
    reference: chr 20
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
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.7001A>G
  hgvsp: ENSP00000417401.1:p.His2334Arg
  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.5294A>G
  hgvsp: ENSP00000393257.2:p.His1765Arg
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.170A>G
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36237
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His2334Arg
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

20-62192583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192583
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192583
    reference: chr 20
allele count: 1
allele frequency: 8.311722853913159e-6
allele num: 120312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.167G>A
  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.6998G>A
  hgvsp: ENSP00000417401.1:p.Arg2333Gln
  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.5291G>A
  hgvsp: ENSP00000393257.2:p.Arg1764Gln
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36240
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9728
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg2333Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

20-62192584-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192584
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192584
    reference: chr 20
allele count: 5
allele frequency: 4.155446959875004e-5
allele num: 120324
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.6997C>T
  hgvsp: ENSP00000417401.1:p.Arg2333Trp
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.166C>T
  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.5290C>T
  hgvsp: ENSP00000393257.2:p.Arg1764Trp
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36245
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg2333Trp
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

20-62192585-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192585
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192585
    reference: chr 20
allele count: 1
allele frequency: 8.312137383006666e-6
allele num: 120306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.165C>G
  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.5289C>G
  hgvsp: ENSP00000393257.2:p.Asp1763Glu
  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.6996C>G
  hgvsp: ENSP00000417401.1:p.Asp2332Glu
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36246
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp2332Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

20-62192588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192588
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192588
    reference: chr 20
allele count: 23
allele frequency: 1.911410288373639e-4
allele num: 120330
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.6993G>A
  hgvsp: ENST00000467148.1:c.6993G>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.5286G>A
  hgvsp: ENST00000427522.2:c.5286G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.162G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu2331Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

20-62192593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192593
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192593
    reference: chr 20
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
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.5281G>A
  hgvsp: ENSP00000393257.2:p.Glu1761Lys
  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.6988G>A
  hgvsp: ENSP00000417401.1:p.Glu2330Lys
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.157G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36254
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu2330Lys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

20-62192594-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192594
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192594
    reference: chr 20
allele count: 3
allele frequency: 2.493268175925002e-5
allele num: 120324
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.5280C>T
  hgvsp: ENST00000427522.2:c.5280C>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.6987C>T
  hgvsp: ENST00000467148.1:c.6987C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.156C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe2329Phe
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

20-62192601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192601
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192601
    reference: chr 20
allele count: 10
allele frequency: 8.310755780130645e-5
allele num: 120326
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.6980G>A
  hgvsp: ENSP00000417401.1:p.Arg2327Gln
  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.5273G>A
  hgvsp: ENSP00000393257.2:p.Arg1758Gln
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.149G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36259
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg2327Gln
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

20-62192602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192602
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192602
    reference: chr 20
allele count: 4
allele frequency: 3.324357567900003e-5
allele num: 120324
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.6979C>T
  hgvsp: ENSP00000417401.1:p.Arg2327Trp
  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.5272C>T
  hgvsp: ENSP00000393257.2:p.Arg1758Trp
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.148C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36260
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg2327Trp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

20-62192614-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192614
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192614
    reference: chr 20
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
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.5260T>C
  hgvsp: ENST00000427522.2:c.5260T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.136T>C
  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.6967T>C
  hgvsp: ENST00000467148.1:c.6967T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu2323Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/20-62192617-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192617
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192617
    reference: chr 20
allele count: 1
allele frequency: 8.313381218409152e-6
allele num: 120288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.133G>T
  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.6964G>T
  hgvsp: ENSP00000417401.1:p.Val2322Phe
  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.5257G>T
  hgvsp: ENSP00000393257.2:p.Val1753Phe
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val2322Phe
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

20-62192621-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192621
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192621
    reference: chr 20
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
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.6960G>C
  hgvsp: ENSP00000417401.1:p.Lys2320Asn
  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.5253G>C
  hgvsp: ENSP00000393257.2:p.Lys1751Asn
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.129G>C
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 92
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36259
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
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genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 8947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys2320Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD

20-62192623-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192623
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192623
    reference: chr 20
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.127A>C
  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.6958A>C
  hgvsp: ENSP00000417401.1:p.Lys2320Gln
  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.5251A>C
  hgvsp: ENSP00000393257.2:p.Lys1751Gln
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36260
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 266
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genotype quality: GenotypeQuality
  all individuals: 8938
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
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genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
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genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2310
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genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1650
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys2320Gln
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

20-62192628-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192628
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192628
    reference: chr 20
allele count: 3
allele frequency: 2.493931433511788e-5
allele num: 120292
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6954-1G>C
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5247-1G>C
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.123-1G>C
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 8735
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2312
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36261
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
hgvs: c.6954-1G>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

20-62192632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192632
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192632
    reference: chr 20
allele count: 1
allele frequency: 8.316284949187499e-6
allele num: 120246
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6954-5G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.123-5G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5247-5G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
hgvs: c.6954-5G>A
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

20-62192633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192633
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192633
    reference: chr 20
allele count: 2
allele frequency: 1.66292508522491e-5
allele num: 120270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5247-6C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.123-6C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6954-6C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 36262
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.75e1
  variant carriers: 0
hgvs: c.6954-6C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

20-62192633-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192633
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192633
    reference: chr 20
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5247-6C>G
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.123-6C>G
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6954-6C>G
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 8.75e1
  variant carriers: 0
hgvs: c.6954-6C>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

20-62192634-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192634
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192634
    reference: chr 20
allele count: 4
allele frequency: 3.325850170449821e-5
allele num: 120270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5247-7C>G
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.123-7C>G
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6954-7C>G
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5506
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6288
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 252
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 8.75e1
  variant carriers: 0
hgvs: c.6954-7C>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

20-62192638-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192638
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192638
    reference: chr 20
allele count: 1
allele frequency: 8.315455104857889e-6
allele num: 120258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.123-11G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5247-11G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6954-11G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36261
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

20-62192644-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192644
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192644
    reference: chr 20
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6954-17A>G
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5247-17A>G
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.123-17A>G
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5649
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

20-62192646-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192646
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192646
    reference: chr 20
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5247-19C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6954-19C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.123-19C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 9.75e1
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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: 2317
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

20-62192648-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192648
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192648
    reference: chr 20
allele count: 1
allele frequency: 8.315316813570598e-6
allele num: 120260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5247-21G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.123-21G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6954-21G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  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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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2396
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/20-62192649-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192649
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192650
    reference: chr 20
allele count: 1
allele frequency: 8.315870006320061e-6
allele num: 120252
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5247-23dupG
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.123-23dupG
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6954-23dupG
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  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
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  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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genotype depth: GenotypeDepth
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  bin: 4.25e1
  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
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  bin: 5.25e1
  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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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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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: 2318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

20-62192657-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192657
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192657
    reference: chr 20
allele count: 1
allele frequency: 8.316561600771776e-6
allele num: 120242
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6954-30C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5247-30C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.123-30C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36265
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8789
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

20-62192663-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192663
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192663
    reference: chr 20
allele count: 29
allele frequency: 2.411722635264375e-4
allele num: 120246
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6954-36T>C
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.123-36T>C
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5247-36T>C
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5984
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

20-62192665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192665
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192665
    reference: chr 20
allele count: 176
allele frequency: 1.463933989885547e-3
allele num: 120224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5246+38C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.122+38C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6953+38C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 9.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8773
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36361
  bin: 9.75e1
  variant carriers: 175
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

20-62192669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192669
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192669
    reference: chr 20
allele count: 5
allele frequency: 4.1583499667332e-5
allele num: 120240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.122+34G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5246+34G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6953+34G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36293
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

20-62192681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192681
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192681
    reference: chr 20
allele count: 2
allele frequency: 1.663561352142667e-5
allele num: 120224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.122+22G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6953+22G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5246+22G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5610
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36300
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

20-62192690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192690
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192690
    reference: chr 20
allele count: 1
allele frequency: 8.313934153641504e-6
allele num: 120280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.122+13G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6953+13G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5246+13G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36303
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

20-62192694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192694
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192694
    reference: chr 20
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6953+9C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5246+9C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.122+9C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36303
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

20-62192698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192698
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192698
    reference: chr 20
allele count: 4
allele frequency: 3.32474441027346e-5
allele num: 120310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.122+5G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5246+5G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6953+5G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36304
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 8.25e1
  variant carriers: 0
hgvs: c.6953+5G>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

20-62192707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192707
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192707
    reference: chr 20
allele count: 2
allele frequency: 1.662234042553192e-5
allele num: 120320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.118G>A
  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.6949G>A
  hgvsp: ENSP00000417401.1:p.Val2317Ile
  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.5242G>A
  hgvsp: ENSP00000393257.2:p.Val1748Ile
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36304
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9890
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val2317Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

20-62192711-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192711
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192711
    reference: chr 20
allele count: 1
allele frequency: 8.310341388824253e-6
allele num: 120332
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.6945C>A
  hgvsp: ENSP00000417401.1:p.Asp2315Glu
  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.5238C>A
  hgvsp: ENSP00000393257.2:p.Asp1746Glu
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.114C>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp2315Glu
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD

20-62192716-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192716
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192716
    reference: chr 20
allele count: 1
allele frequency: 8.30827005200977e-6
allele num: 120362
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.6940G>A
  hgvsp: ENSP00000417401.1:p.Glu2314Lys
  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.5233G>A
  hgvsp: ENSP00000393257.2:p.Glu1745Lys
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.109G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36305
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9975
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu2314Lys
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

20-62192724-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192724
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192724
    reference: chr 20
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
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.5225T>C
  hgvsp: ENSP00000393257.2:p.Phe1742Ser
  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.6932T>C
  hgvsp: ENSP00000417401.1:p.Phe2311Ser
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.101T>C
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2341
  bin: 8.25e1
  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: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 10070
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 83
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2967
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe2311Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-62192736-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192736
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192736
    reference: chr 20
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
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.6920G>T
  hgvsp: ENSP00000417401.1:p.Arg2307Ile
  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.5213G>T
  hgvsp: ENSP00000393257.2:p.Arg1738Ile
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.89G>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9975
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36306
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg2307Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

20-62192745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192745
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192745
    reference: chr 20
allele count: 14
allele frequency: 1.163737926219015e-4
allele num: 120302
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.6911G>A
  hgvsp: ENSP00000417401.1:p.Arg2304Gln
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.80G>A
  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.5204G>A
  hgvsp: ENSP00000393257.2:p.Arg1735Gln
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36316
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg2304Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

20-62192750-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192750
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192750
    reference: chr 20
allele count: 1
allele frequency: 8.316423272678886e-6
allele num: 120244
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.5199C>T
  hgvsp: ENST00000427522.2:c.5199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.75C>T
  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.6906C>T
  hgvsp: ENST00000467148.1:c.6906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp2302Asp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

20-62192768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192768
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192768
    reference: chr 20
allele count: 784
allele frequency: 6.554526301708859e-3
allele num: 119612
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.5181G>A
  hgvsp: ENST00000427522.2:c.5181G>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.6888G>A
  hgvsp: ENST00000467148.1:c.6888G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.57G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5572
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 9.75e1
  variant carriers: 672
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser2296Ser
num of homozygotes: 7
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

20-62192771-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192771
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192771
    reference: chr 20
allele count: 5
allele frequency: 4.185431350554988e-5
allele num: 119462
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.6885G>A
  hgvsp: ENST00000467148.1:c.6885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.54G>A
  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.5178G>A
  hgvsp: ENST00000427522.2:c.5178G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36504
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser2295Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

20-62192779-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192779
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192779
    reference: chr 20
allele count: 1
allele frequency: 8.39630562552477e-6
allele num: 119100
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.5170C>G
  hgvsp: ENSP00000393257.2:p.Pro1724Ala
  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.6877C>G
  hgvsp: ENSP00000417401.1:p.Pro2293Ala
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.46C>G
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36514
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 295
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genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro2293Ala
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

20-62192779-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192779
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192779
    reference: chr 20
allele count: 18
allele frequency: 1.511335012594458e-4
allele num: 119100
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.5170C>A
  hgvsp: ENSP00000393257.2:p.Pro1724Thr
  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.6877C>A
  hgvsp: ENSP00000417401.1:p.Pro2293Thr
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.46C>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
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genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36514
  bin: 9.75e1
  variant carriers: 18
hgvs: p.Pro2293Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

20-62192783-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192783
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192783
    reference: chr 20
allele count: 1
allele frequency: 8.420059950826851e-6
allele num: 118764
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.6873C>T
  hgvsp: ENST00000467148.1:c.6873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.42C>T
  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.5166C>T
  hgvsp: ENST00000427522.2:c.5166C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36512
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro2291Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

20-62192785-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192785
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192785
    reference: chr 20
allele count: 1
allele frequency: 8.440528039434147e-6
allele num: 118476
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.6871C>A
  hgvsp: ENSP00000417401.1:p.Pro2291Thr
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.40C>A
  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.5164C>A
  hgvsp: ENSP00000393257.2:p.Pro1722Thr
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36514
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro2291Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

20-62192787-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192787
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192787
    reference: chr 20
allele count: 1
allele frequency: 8.448514751106756e-6
allele num: 118364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.38C>A
  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.6869C>A
  hgvsp: ENSP00000417401.1:p.Ala2290Asp
  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.5162C>A
  hgvsp: ENSP00000393257.2:p.Ala1721Asp
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 388
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genotype quality: GenotypeQuality
  all individuals: 216
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2296
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genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2687
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2290Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

20-62192788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192788
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192788
    reference: chr 20
allele count: 1
allele frequency: 8.467543904215143e-6
allele num: 118098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.37G>A
  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.5161G>A
  hgvsp: ENSP00000393257.2:p.Ala1721Thr
  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.6868G>A
  hgvsp: ENSP00000417401.1:p.Ala2290Thr
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6825
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genotype quality: GenotypeQuality
  all individuals: 2292
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
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genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
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genotype quality: GenotypeQuality
  all individuals: 2600
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36515
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala2290Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

20-62192795-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192795
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192795
    reference: chr 20
allele count: 1
allele frequency: 8.505137102810097e-6
allele num: 117576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.30C>T
  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.5154C>T
  hgvsp: ENST00000427522.2:c.5154C>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.6861C>T
  hgvsp: ENST00000467148.1:c.6861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36517
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2364
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genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2889
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genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile2287Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

20-62192799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192799
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192799
    reference: chr 20
allele count: 33
allele frequency: 2.816276370587834e-4
allele num: 117176
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.6857G>A
  hgvsp: ENSP00000417401.1:p.Arg2286Gln
  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.5150G>A
  hgvsp: ENSP00000393257.2:p.Arg1717Gln
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.26G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg2286Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

20-62192800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192800
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192800
    reference: chr 20
allele count: 4
allele frequency: 3.424657534246575e-5
allele num: 116800
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.6856C>T
  hgvsp: ENSP00000417401.1:p.Arg2286Trp
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.25C>T
  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.5149C>T
  hgvsp: ENSP00000393257.2:p.Arg1717Trp
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36522
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg2286Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS

20-62192800-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192800
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192800
    reference: chr 20
allele count: 1
allele frequency: 8.561643835616438e-6
allele num: 116800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.25C>G
  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.5149C>G
  hgvsp: ENSP00000393257.2:p.Arg1717Gly
  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.6856C>G
  hgvsp: ENSP00000417401.1:p.Arg2286Gly
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36522
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg2286Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

20-62192807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192807
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192807
    reference: chr 20
allele count: 1
allele frequency: 8.593870851308846e-6
allele num: 116362
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.6849G>A
  hgvsp: ENST00000467148.1:c.6849G>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.5142G>A
  hgvsp: ENST00000427522.2:c.5142G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.18G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36522
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5743
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu2283Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

20-62192808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192808
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192808
    reference: chr 20
allele count: 1
allele frequency: 8.589884551951622e-6
allele num: 116416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.17T>C
  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.6848T>C
  hgvsp: ENSP00000417401.1:p.Leu2283Pro
  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.5141T>C
  hgvsp: ENSP00000393257.2:p.Leu1714Pro
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36522
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu2283Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

20-62192822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192822
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192822
    reference: chr 20
allele count: 3
allele frequency: 2.605976372480889e-5
allele num: 115120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5130-3C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.6-3C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6837-3C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36523
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
hgvs: c.6837-3C>T
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

20-62192822-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192822
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192822
    reference: chr 20
allele count: 1
allele frequency: 8.686587908269631e-6
allele num: 115120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5130-3C>G
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.6-3C>G
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6837-3C>G
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36523
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 8.25e1
  variant carriers: 0
hgvs: c.6837-3C>G
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

20-62192825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192825
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192825
    reference: chr 20
allele count: 1
allele frequency: 8.69837514352319e-6
allele num: 114964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.6-6C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5130-6C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6837-6C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36524
  bin: 9.75e1
  variant carriers: 1
hgvs: c.6837-6C>T
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

20-62192832-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192832
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192832
    reference: chr 20
allele count: 1
allele frequency: 8.731184297838158e-6
allele num: 114532
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6837-13T>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.6-13T>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5130-13T>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36523
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/20-62192833-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192833
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192833
    reference: chr 20
allele count: 95
allele frequency: 8.310733969031581e-4
allele num: 114310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6837-14G>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.6-14G>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5130-14G>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 9.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  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: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36558
  bin: 9.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

20-62192835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192835
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192835
    reference: chr 20
allele count: 1
allele frequency: 8.754114433783878e-6
allele num: 114232
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6837-16G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5130-16G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.6-16G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
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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genotype quality: GenotypeQuality
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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: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-62192835-CAGTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192835
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192831
    reference: chr 20
allele count: 1
allele frequency: 8.754114433783878e-6
allele num: 114232
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6837-20_6837-17delCACT
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.6-20_6-17delCACT
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5130-20_5130-17delCACT
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4108
  bin: 2.75e1
  variant carriers: 0
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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4664
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: CAGTG
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

20-62192843-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192843
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192843
    reference: chr 20
allele count: 1
allele frequency: 8.810727942342596e-6
allele num: 113498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.6-24G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5130-24G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6837-24G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  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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  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: 1593
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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
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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
  all individuals: 728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36555
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

20-62192851-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192851
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192851
    reference: chr 20
allele count: 2
allele frequency: 1.77166749344483e-5
allele num: 112888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5130-32G>C
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.6-32G>C
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6837-32G>C
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

20-62192864-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192864
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192864
    reference: chr 20
allele count: 5
allele frequency: 4.473712465552414e-5
allele num: 111764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5130-45G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6837-45G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.6-45G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36558
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

20-62192865-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192865
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192865
    reference: chr 20
allele count: 4
allele frequency: 3.579034018718348e-5
allele num: 111762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6837-46C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5130-46C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.6-46C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36561
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

20-62192866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192866
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192866
    reference: chr 20
allele count: 1
allele frequency: 8.946464357286e-6
allele num: 111776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5130-47C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6837-47C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.6-47C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36563
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

20-62192869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192869
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192869
    reference: chr 20
allele count: 1
allele frequency: 8.959610077769416e-6
allele num: 111612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.6-50C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6837-50C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5130-50C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36564
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-62192909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192909
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192909
    reference: chr 20
allele count: 59
allele frequency: 5.341106604866744e-4
allele num: 110464
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6836+45G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5129+45G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.5+45G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 614
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  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: 1073
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 9.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.75e1
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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: 1204
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16813
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

20-62192914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192914
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192914
    reference: chr 20
allele count: 2
allele frequency: 1.811331691059267e-5
allele num: 110416
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6836+40G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5129+40G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.5+40G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
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  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
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19833
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 667
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

20-62192915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192915
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192915
    reference: chr 20
allele count: 1
allele frequency: 9.049446173894157e-6
allele num: 110504
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6836+39C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.5+39C>T
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5129+39C>T
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  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: 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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 16809
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

20-62192917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192917
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192917
    reference: chr 20
allele count: 1
allele frequency: 9.067005168192946e-6
allele num: 110290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.5+37G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5129+37G>A
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6836+37G>A
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26635
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

20-62192921-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62192921
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 62192921
    reference: chr 20
allele count: 1
allele frequency: 9.057806923787613e-6
allele num: 110402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000393257
  ensembl transcript: ENST00000427522
  gene symbol: HELZ2
  hgvsc: ENST00000427522.2:c.5129+33T>C
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl transcript: ENST00000478861
  gene symbol: HELZ2
  hgvsc: ENST00000478861.1:n.5+33T>C
  variant of: http://identifiers.org/hgnc/30021
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130589
  ensembl protein: ENSP00000417401
  ensembl transcript: ENST00000467148
  gene symbol: HELZ2
  hgvsc: ENST00000467148.1:c.6836+33T>C
  variant of: http://identifiers.org/hgnc/30021
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16806
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5509
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
reference allele: A

GenotypeQuality
all individuals: 1644
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518879674352198e-5
allele num: 65838
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.739e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 2.811996e6

QD
type: SiteQuality
SIO_000300: 1.363e1

GenotypeQuality
all individuals: 2386
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.363e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 1.739e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 2.811996e6

GenotypeQuality
all individuals: 2386
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518741267237713e-5
allele num: 65844
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.812186e6

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 1.244e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

FS
type: SiteQuality
SIO_000300: 2.637e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 1639
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65854
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.797e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.958e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.34e-1

DP
type: SiteQuality
SIO_000300: 2.81434e6

VQSLOD
type: SiteQuality
SIO_000300: -1.438e0

FS
type: SiteQuality
SIO_000300: 1.1404e1

GenotypeQuality
all individuals: 36234
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-5
allele num: 65860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

DP
type: SiteQuality
SIO_000300: 2.812509e6

VQSLOD
type: SiteQuality
SIO_000300: -7.4e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.028e1

MQRankSum
type: SiteQuality
SIO_000300: -1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

FS
type: SiteQuality
SIO_000300: 1.062e0

GenotypeQuality
all individuals: 1647
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65876
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.8126e6

FS
type: SiteQuality
SIO_000300: 8.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517819197377208e-5
allele num: 65884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 1.099e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

DP
type: SiteQuality
SIO_000300: 2.812575e6

MQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.025e0

GenotypeQuality
all individuals: 2269
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.712509712509713e-5
allele num: 10296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.921e-1

MQ
type: SiteQuality
SIO_000300: 5.909e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.614e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 2.812023e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

FS
type: SiteQuality
SIO_000300: 1.2015e1

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 2.596952908587258e-4
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.51758885482745e-5
allele num: 65894
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.082725060827251e-5
allele num: 16440
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.812284e6

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.802e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10292
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65874
num of homozygotes: 0

East Asian
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Other
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allele frequency: 0.0e0
allele num: 902
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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Latino
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allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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QD
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SIO_000300: 1.304e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 23

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65900
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 23
allele frequency: 2.234745433346288e-3
allele num: 10292
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 1.101e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

MQRankSum
type: SiteQuality
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QD
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DP
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65894
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

DP
type: SiteQuality
SIO_000300: 2.811841e6

FS
type: SiteQuality
SIO_000300: 3.76e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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

Other
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.034164694459615e-5
allele num: 65916
num of homozygotes: 0

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

East Asian
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allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.748e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.176e-1

DP
type: SiteQuality
SIO_000300: 2.811896e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

South Asian
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allele count: 10
allele frequency: 6.094588005850804e-4
allele num: 16408
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 1.094e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

DP
type: SiteQuality
SIO_000300: 2.812004e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65928
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.099048548426445e-5
allele num: 16396
num of homozygotes: 0

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

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

East Asian
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allele count: 3
allele frequency: 3.474635163307853e-4
allele num: 8634
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.811821e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

FS
type: SiteQuality
SIO_000300: 4.973e0

QD
type: SiteQuality
SIO_000300: 1.363e1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.047e0

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65952
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.462e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 4.114e0

DP
type: SiteQuality
SIO_000300: 2.810838e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.516254245511887e-5
allele num: 65952
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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VQSLOD
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FS
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.809829e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65948
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.699321047526673e-5
allele num: 10310
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele num: 11550
num of homozygotes: 0

South Asian
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
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QD
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65940
num of homozygotes: 0

South Asian
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allele num: 16354
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MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele frequency: 2.908667830133799e-4
allele num: 10314
num of homozygotes: 0

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

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

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

FS
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
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South Asian
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Latino
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
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VQSLOD
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MQ
type: SiteQuality
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QD
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DP
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele num: 65940
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African
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South Asian
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Latino
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allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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QD
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.768e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.809191e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65940
num of homozygotes: 0

East Asian
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allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.265e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

South Asian
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allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.065568798714099e-5
allele num: 65946
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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East Asian
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VQSLOD
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 7.118e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516300227445034e-5
allele num: 65950
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.808946e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516392199678525e-5
allele num: 65946
num of homozygotes: 0

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: 6614
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South Asian
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allele frequency: 0.0e0
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Other
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MQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.809369e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.338e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 1.154e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.431e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516484183069971e-5
allele num: 65942
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 892
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.80906e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.404e0

MQRankSum
type: SiteQuality
SIO_000300: -2.202e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516208266367468e-5
allele num: 65954
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.397e-1

FS
type: SiteQuality
SIO_000300: 9.211e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 2.809443e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.518e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65938
num of homozygotes: 0

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

African
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allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

DP
type: SiteQuality
SIO_000300: 2.809473e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e0

QD
type: SiteQuality
SIO_000300: 1.173e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

FS
type: SiteQuality
SIO_000300: 3.84e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 6.045e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.789e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516484183069971e-5
allele num: 65942
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.810023e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.949e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 29

South Asian
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allele frequency: 1.779359430604982e-3
allele num: 16298
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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African
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Latino
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allele count: 0
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Other
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allele num: 890
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

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

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

African
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Other
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Latino
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allele num: 11558
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East Asian
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South Asian
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allele frequency: 4.602356406480118e-3
allele num: 16296
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European (Non-Finnish)
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allele frequency: 1.259140143815043e-3
allele num: 65918
num of homozygotes: 0

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

East Asian
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Other
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allele num: 890
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 9.693679720822024e-5
allele num: 10316
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South Asian
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.0666727333394e-5
allele num: 65934
num of homozygotes: 0

Latino
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num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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num of homozygotes: 0

Latino
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 3.034532985373551e-5
allele num: 65908
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516576177621402e-5
allele num: 65938
num of homozygotes: 0

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

Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.516484183069971e-5
allele num: 65942
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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QD
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MQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.065200909780136e-5
allele num: 65950
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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 frequency: 0.0e0
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African
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South Asian
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.032232632887595e-5
allele num: 65958
num of homozygotes: 0

InbreedingCoeff
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QD
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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BaseQRankSum
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FS
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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Other
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allele frequency: 1.121076233183856e-3
allele num: 892
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African
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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num of homozygotes: 0

ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.515564851019975e-5
allele num: 65982
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East Asian
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Other
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Latino
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11562
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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East Asian
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Other
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European (Non-Finnish)
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allele num: 66016
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FS
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.514646632940535e-5
allele num: 66022
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African
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allele frequency: 0.0e0
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Latino
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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DP
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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European (Non-Finnish)
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allele frequency: 2.120376821252234e-4
allele num: 66026
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Latino
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East Asian
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African
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South Asian
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Other
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VQSLOD
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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African
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeQuality
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bin: 9.75e1
variant carriers: 776

East Asian
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European (Finnish)
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allele frequency: 1.527063804052011e-2
allele num: 6614
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African
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Other
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Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 9.645471944587904e-3
allele num: 65834
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DP
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ClippingRankSum
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BaseQRankSum
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QD
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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Latino
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European (Non-Finnish)
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South Asian
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African
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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DP
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GenotypeQuality
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East Asian
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Other
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South Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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African
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European (Finnish)
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ClippingRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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MQ
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DP
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GenotypeQuality
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South Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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African
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65510
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 872
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African
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allele frequency: 9.815469179426777e-5
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num of homozygotes: 0

InbreedingCoeff
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FS
type: SiteQuality
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.12e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.527183872938302e-5
allele num: 65480
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 9.838646202282565e-5
allele num: 10164
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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MQ
type: SiteQuality
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FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 864
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65252
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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African
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allele frequency: 9.871668311944718e-5
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South Asian
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allele frequency: 0.0e0
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Latino
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East Asian
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FS
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 31

Latino
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allele frequency: 4.332004851845434e-4
allele num: 11542
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Other
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allele count: 1
allele frequency: 1.160092807424594e-3
allele num: 862
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.13986615091791e-5
allele num: 65148
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East Asian
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South Asian
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allele count: 22
allele frequency: 1.538676738005315e-3
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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African
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allele frequency: 9.899029895070283e-5
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
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BaseQRankSum
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MQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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SIO_000300: -9.0e-4

ClippingRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.075030750307503e-5
allele num: 65040
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South Asian
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African
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allele frequency: 1.980982567353407e-4
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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Other
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allele count: 0
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Latino
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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QD
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DP
type: SiteQuality
SIO_000300: 2.864594e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

East Asian
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Latino
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allele frequency: 0.0e0
allele num: 11540
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European (Non-Finnish)
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allele frequency: 1.537515375153751e-5
allele num: 65040
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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South Asian
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African
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VQSLOD
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

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

European (Non-Finnish)
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allele frequency: 1.540832049306625e-5
allele num: 64900
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Other
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South Asian
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African
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Latino
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

East Asian
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.540072691431036e-5
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Other
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African
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South Asian
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MQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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Other
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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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allele num: 64568
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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MQRankSum
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VQSLOD
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GenotypeQuality
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Latino
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East Asian
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.548754801139884e-5
allele num: 64568
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Other
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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FS
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Other
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Latino
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European (Finnish)
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South Asian
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MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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DP
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MQ
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GenotypeQuality
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African
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Other
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QD
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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MQ
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GenotypeQuality
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Latino
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African
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European (Finnish)
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East Asian
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allele frequency: 1.072011186203682e-2
allele num: 8582
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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QD
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.554629687208507e-5
allele num: 64324
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South Asian
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allele num: 12414
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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East Asian
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Other
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FS
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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East Asian
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South Asian
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African
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allele frequency: 1.004621257785815e-4
allele num: 9954
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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South Asian
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East Asian
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European (Non-Finnish)
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allele num: 64138
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African
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allele frequency: 1.010509296685529e-4
allele num: 9896
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European (Finnish)
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allele frequency: 0.0e0
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Other
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Latino
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MQRankSum
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 2

African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.563672754565924e-5
allele num: 63952
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European (Finnish)
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Other
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allele frequency: 0.0e0
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Latino
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East Asian
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allele num: 8560
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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DP
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MQ
type: SiteQuality
SIO_000300: 5.988e1

GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8548
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European (Non-Finnish)
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allele count: 5
allele frequency: 7.860152172546061e-5
allele num: 63612
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African
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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Latino
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Other
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QD
type: SiteQuality
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VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
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variant carriers: 0

Other
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East Asian
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allele count: 0
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African
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Latino
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allele frequency: 1.740341106856944e-4
allele num: 11492
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.143962020938787e-5
allele num: 63614
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FS
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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VQSLOD
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.453e1

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63628
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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Latino
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African
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East Asian
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Other
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allele num: 802
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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DP
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BaseQRankSum
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FS
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
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variant carriers: 0

African
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.572623765490344e-5
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South Asian
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Latino
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East Asian
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ClippingRankSum
type: SiteQuality
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 1.056338028169014e-3
allele num: 8520
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European (Finnish)
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allele count: 5
allele frequency: 7.562008469449486e-4
allele num: 6612
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African
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South Asian
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Latino
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allele frequency: 2.789886660854403e-3
allele num: 11470
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Other
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European (Non-Finnish)
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allele frequency: 1.746919070003811e-4
allele num: 62968
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VQSLOD
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ReadPosRankSum
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MQ
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DP
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeQuality
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Latino
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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African
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European (Finnish)
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allele frequency: 0.0e0
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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