4-170400556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400556
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400556
    reference: chr 4
allele count: 101
allele frequency: 8.386336084494412e-4
allele num: 120434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1921G>A
  hgvsp: ENSP00000427653.1:p.Val641Met
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.2053G>A
  hgvsp: ENSP00000408020.2:p.Val685Met
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1846G>A
  hgvsp: ENSP00000424938.1:p.Val616Met
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.2005G>A
  hgvsp: ENSP00000423332.1:p.Val669Met
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2137G>A
  hgvsp: ENSP00000424757.1:p.Val713Met
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28857
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12618
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11978
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val713Met
num of homozygotes: 1
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

4-170400557-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400557
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400557
    reference: chr 4
allele count: 3
allele frequency: 2.491115023084333e-5
allele num: 120428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.2004C>T
  hgvsp: ENST00000511633.1:c.2004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1845C>T
  hgvsp: ENST00000512193.1:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2136C>T
  hgvsp: ENST00000507142.1:c.2136C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1920C>T
  hgvsp: ENST00000510533.1:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.2052C>T
  hgvsp: ENST00000439128.2:c.2052C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12641
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly712Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-170400583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400583
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400583
    reference: chr 4
allele count: 18
allele frequency: 1.494917281243771e-4
allele num: 120408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1894G>A
  hgvsp: ENSP00000427653.1:p.Val632Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1819G>A
  hgvsp: ENSP00000424938.1:p.Val607Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1978G>A
  hgvsp: ENSP00000423332.1:p.Val660Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.2026G>A
  hgvsp: ENSP00000408020.2:p.Val676Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2110G>A
  hgvsp: ENSP00000424757.1:p.Val704Ile
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val704Ile
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS

4-170400583-CAGAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400583
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400578
    reference: chr 4
allele count: 1
allele frequency: 8.305096006909839e-6
allele num: 120408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1973_1977delTTTCT
  hgvsp: ENSP00000423332.1:p.Ile658SerfsTer13
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1814_1818delTTTCT
  hgvsp: ENSP00000424938.1:p.Ile605SerfsTer13
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2105_2109delTTTCT
  hgvsp: ENSP00000424757.1:p.Ile702SerfsTer13
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.2021_2025delTTTCT
  hgvsp: ENSP00000408020.2:p.Ile674SerfsTer13
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1889_1893delTTTCT
  hgvsp: ENSP00000427653.1:p.Ile630SerfsTer13
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12636
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile702SerfsTer13
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: CAGAAA
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

4-170400588-A-ATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400588
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400590
    reference: chr 4
allele count: 1
allele frequency: 8.304130474498016e-6
allele num: 120422
alternate allele: ATT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1972_1973insAA
  hgvsp: ENSP00000423332.1:p.Ile658LysfsTer4
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1888_1889insAA
  hgvsp: ENSP00000427653.1:p.Ile630LysfsTer4
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2104_2105insAA
  hgvsp: ENSP00000424757.1:p.Ile702LysfsTer4
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1813_1814insAA
  hgvsp: ENSP00000424938.1:p.Ile605LysfsTer4
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.2020_2021insAA
  hgvsp: ENSP00000408020.2:p.Ile674LysfsTer4
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile702LysfsTer4
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/4-170400597-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400597
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400597
    reference: chr 4
allele count: 4
allele frequency: 3.32242470555011e-5
allele num: 120394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1805G>T
  hgvsp: ENSP00000424938.1:p.Arg602Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1880G>T
  hgvsp: ENSP00000427653.1:p.Arg627Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1964G>T
  hgvsp: ENSP00000423332.1:p.Arg655Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.2012G>T
  hgvsp: ENSP00000408020.2:p.Arg671Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2096G>T
  hgvsp: ENSP00000424757.1:p.Arg699Ile
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg699Ile
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: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

4-170400599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400599
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400599
    reference: chr 4
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2094G>A
  hgvsp: ENSP00000424757.1:p.Met698Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1962G>A
  hgvsp: ENSP00000423332.1:p.Met654Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1803G>A
  hgvsp: ENSP00000424938.1:p.Met601Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1878G>A
  hgvsp: ENSP00000427653.1:p.Met626Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.2010G>A
  hgvsp: ENSP00000408020.2:p.Met670Ile
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met698Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

4-170400600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400600
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400600
    reference: chr 4
allele count: 69
allele frequency: 5.731373037627709e-4
allele num: 120390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1802T>C
  hgvsp: ENSP00000424938.1:p.Met601Thr
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1961T>C
  hgvsp: ENSP00000423332.1:p.Met654Thr
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1877T>C
  hgvsp: ENSP00000427653.1:p.Met626Thr
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.2009T>C
  hgvsp: ENSP00000408020.2:p.Met670Thr
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2093T>C
  hgvsp: ENSP00000424757.1:p.Met698Thr
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28936
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12622
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 9.75e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 8621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Met698Thr
num of homozygotes: 1
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

4-170400601-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400601
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400601
    reference: chr 4
allele count: 1
allele frequency: 8.307303781484682e-6
allele num: 120376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1876A>G
  hgvsp: ENSP00000427653.1:p.Met626Val
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1801A>G
  hgvsp: ENSP00000424938.1:p.Met601Val
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.2008A>G
  hgvsp: ENSP00000408020.2:p.Met670Val
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1960A>G
  hgvsp: ENSP00000423332.1:p.Met654Val
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2092A>G
  hgvsp: ENSP00000424757.1:p.Met698Val
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met698Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

4-170400605-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400605
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400605
    reference: chr 4
allele count: 1
allele frequency: 8.307303781484682e-6
allele num: 120376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2088A>G
  hgvsp: ENST00000507142.1:c.2088A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1797A>G
  hgvsp: ENST00000512193.1:c.1797A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.2004A>G
  hgvsp: ENST00000439128.2:c.2004A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1872A>G
  hgvsp: ENST00000510533.1:c.1872A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1956A>G
  hgvsp: ENST00000511633.1:c.1956A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln696Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

4-170400607-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400607
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400607
    reference: chr 4
allele count: 1
allele frequency: 8.307717869901138e-6
allele num: 120370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.2002C>G
  hgvsp: ENSP00000408020.2:p.Gln668Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1954C>G
  hgvsp: ENSP00000423332.1:p.Gln652Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1870C>G
  hgvsp: ENSP00000427653.1:p.Gln624Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1795C>G
  hgvsp: ENSP00000424938.1:p.Gln599Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2086C>G
  hgvsp: ENSP00000424757.1:p.Gln696Glu
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln696Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

4-170400610-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400610
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400610
    reference: chr 4
allele count: 2
allele frequency: 1.661515967168445e-5
allele num: 120372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1792A>G
  hgvsp: ENSP00000424938.1:p.Lys598Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1867A>G
  hgvsp: ENSP00000427653.1:p.Lys623Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1999A>G
  hgvsp: ENSP00000408020.2:p.Lys667Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2083A>G
  hgvsp: ENSP00000424757.1:p.Lys695Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1951A>G
  hgvsp: ENSP00000423332.1:p.Lys651Glu
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys695Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

4-170400618-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400618
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400618
    reference: chr 4
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1943C>T
  hgvsp: ENSP00000423332.1:p.Ser648Phe
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1784C>T
  hgvsp: ENSP00000424938.1:p.Ser595Phe
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2075C>T
  hgvsp: ENSP00000424757.1:p.Ser692Phe
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1859C>T
  hgvsp: ENSP00000427653.1:p.Ser620Phe
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1991C>T
  hgvsp: ENSP00000408020.2:p.Ser664Phe
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser692Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

4-170400618-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400618
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400618
    reference: chr 4
allele count: 2
allele frequency: 1.6619025460347e-5
allele num: 120344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1859C>G
  hgvsp: ENSP00000427653.1:p.Ser620Cys
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1943C>G
  hgvsp: ENSP00000423332.1:p.Ser648Cys
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1991C>G
  hgvsp: ENSP00000408020.2:p.Ser664Cys
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2075C>G
  hgvsp: ENSP00000424757.1:p.Ser692Cys
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1784C>G
  hgvsp: ENSP00000424938.1:p.Ser595Cys
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8619
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser692Cys
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

4-170400618-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400618
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400618
    reference: chr 4
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1859C>A
  hgvsp: ENSP00000427653.1:p.Ser620Tyr
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1784C>A
  hgvsp: ENSP00000424938.1:p.Ser595Tyr
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1991C>A
  hgvsp: ENSP00000408020.2:p.Ser664Tyr
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1943C>A
  hgvsp: ENSP00000423332.1:p.Ser648Tyr
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2075C>A
  hgvsp: ENSP00000424757.1:p.Ser692Tyr
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12621
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser692Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

4-170400625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400625
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400625
    reference: chr 4
allele count: 11
allele frequency: 9.143351121307333e-5
allele num: 120306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1936G>A
  hgvsp: ENSP00000423332.1:p.Gly646Ser
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1777G>A
  hgvsp: ENSP00000424938.1:p.Gly593Ser
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1852G>A
  hgvsp: ENSP00000427653.1:p.Gly618Ser
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1984G>A
  hgvsp: ENSP00000408020.2:p.Gly662Ser
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2068G>A
  hgvsp: ENSP00000424757.1:p.Gly690Ser
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12619
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly690Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

4-170400626-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400626
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400626
    reference: chr 4
allele count: 7
allele frequency: 5.818592897991754e-5
allele num: 120304
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2067A>G
  hgvsp: ENST00000507142.1:c.2067A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1851A>G
  hgvsp: ENST00000510533.1:c.1851A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1983A>G
  hgvsp: ENST00000439128.2:c.1983A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1776A>G
  hgvsp: ENST00000512193.1:c.1776A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1935A>G
  hgvsp: ENST00000511633.1:c.1935A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12619
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8603
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr689Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

4-170400629-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400629
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400629
    reference: chr 4
allele count: 1
allele frequency: 8.312690152787244e-6
allele num: 120298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1980A>T
  hgvsp: ENSP00000408020.2:p.Glu660Asp
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1932A>T
  hgvsp: ENSP00000423332.1:p.Glu644Asp
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2064A>T
  hgvsp: ENSP00000424757.1:p.Glu688Asp
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1773A>T
  hgvsp: ENSP00000424938.1:p.Glu591Asp
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1848A>T
  hgvsp: ENSP00000427653.1:p.Glu616Asp
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu688Asp
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: T
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/4-170400632-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400632
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400632
    reference: chr 4
allele count: 1
allele frequency: 8.313381218409152e-6
allele num: 120288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1770T>G
  hgvsp: ENSP00000424938.1:p.His590Gln
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1977T>G
  hgvsp: ENSP00000408020.2:p.His659Gln
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2061T>G
  hgvsp: ENSP00000424757.1:p.His687Gln
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1929T>G
  hgvsp: ENSP00000423332.1:p.His643Gln
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1845T>G
  hgvsp: ENSP00000427653.1:p.His615Gln
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12611
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His687Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

4-170400647-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400647
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400647
    reference: chr 4
allele count: 1
allele frequency: 8.320852055250457e-6
allele num: 120180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1914A>G
  hgvsp: ENST00000511633.1:c.1914A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1755A>G
  hgvsp: ENST00000512193.1:c.1755A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1962A>G
  hgvsp: ENST00000439128.2:c.1962A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1830A>G
  hgvsp: ENST00000510533.1:c.1830A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2046A>G
  hgvsp: ENST00000507142.1:c.2046A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro682Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

4-170400648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400648
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400648
    reference: chr 4
allele count: 4
allele frequency: 3.328728592114242e-5
allele num: 120166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1754C>T
  hgvsp: ENSP00000424938.1:p.Pro585Leu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1829C>T
  hgvsp: ENSP00000427653.1:p.Pro610Leu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1961C>T
  hgvsp: ENSP00000408020.2:p.Pro654Leu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2045C>T
  hgvsp: ENSP00000424757.1:p.Pro682Leu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1913C>T
  hgvsp: ENSP00000423332.1:p.Pro638Leu
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12598
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro682Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

4-170400650-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400650
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400649
    reference: chr 4
allele count: 1
allele frequency: 8.325562808045825e-6
allele num: 120112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1826delC
  hgvsp: ENSP00000427653.1:p.Ser609PhefsTer18
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1958delC
  hgvsp: ENSP00000408020.2:p.Ser653PhefsTer18
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2042delC
  hgvsp: ENSP00000424757.1:p.Ser681PhefsTer18
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1751delC
  hgvsp: ENSP00000424938.1:p.Ser584PhefsTer18
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1910delC
  hgvsp: ENSP00000423332.1:p.Ser637PhefsTer18
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser681PhefsTer18
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: AG
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

4-170400651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400651
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400651
    reference: chr 4
allele count: 1
allele frequency: 8.325701440346349e-6
allele num: 120110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1958C>T
  hgvsp: ENSP00000408020.2:p.Ser653Phe
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1910C>T
  hgvsp: ENSP00000423332.1:p.Ser637Phe
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1826C>T
  hgvsp: ENSP00000427653.1:p.Ser609Phe
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2042C>T
  hgvsp: ENSP00000424757.1:p.Ser681Phe
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1751C>T
  hgvsp: ENSP00000424938.1:p.Ser584Phe
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser681Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

4-170400657-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400657
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400657
    reference: chr 4
allele count: 2
allele frequency: 1.66616681662168e-5
allele num: 120036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1952A>G
  hgvsp: ENSP00000408020.2:p.Asp651Gly
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1904A>G
  hgvsp: ENSP00000423332.1:p.Asp635Gly
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2036A>G
  hgvsp: ENSP00000424757.1:p.Asp679Gly
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1745A>G
  hgvsp: ENSP00000424938.1:p.Asp582Gly
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1820A>G
  hgvsp: ENSP00000427653.1:p.Asp607Gly
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp679Gly
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

4-170400660-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400660
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400660
    reference: chr 4
allele count: 4
allele frequency: 3.334000133360006e-5
allele num: 119976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1817C>T
  hgvsp: ENSP00000427653.1:p.Ser606Phe
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1949C>T
  hgvsp: ENSP00000408020.2:p.Ser650Phe
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2033C>T
  hgvsp: ENSP00000424757.1:p.Ser678Phe
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1901C>T
  hgvsp: ENSP00000423332.1:p.Ser634Phe
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1742C>T
  hgvsp: ENSP00000424938.1:p.Ser581Phe
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser678Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD

4-170400670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400670
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400670
    reference: chr 4
allele count: 1
allele frequency: 8.359666282122017e-6
allele num: 119622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1732G>A
  hgvsp: ENSP00000424938.1:p.Val578Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1891G>A
  hgvsp: ENSP00000423332.1:p.Val631Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1807G>A
  hgvsp: ENSP00000427653.1:p.Val603Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1939G>A
  hgvsp: ENSP00000408020.2:p.Val647Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2023G>A
  hgvsp: ENSP00000424757.1:p.Val675Ile
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val675Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-170400672-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400672
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400672
    reference: chr 4
allele count: 1
allele frequency: 8.372124175345769e-6
allele num: 119444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1889G>T
  hgvsp: ENSP00000423332.1:p.Gly630Val
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1937G>T
  hgvsp: ENSP00000408020.2:p.Gly646Val
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1805G>T
  hgvsp: ENSP00000427653.1:p.Gly602Val
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2021G>T
  hgvsp: ENSP00000424757.1:p.Gly674Val
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1730G>T
  hgvsp: ENSP00000424938.1:p.Gly577Val
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly674Val
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: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

4-170400673-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400673
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400673
    reference: chr 4
allele count: 4
allele frequency: 3.349130063466015e-5
allele num: 119434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1888G>C
  hgvsp: ENSP00000423332.1:p.Gly630Arg
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1936G>C
  hgvsp: ENSP00000408020.2:p.Gly646Arg
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1729G>C
  hgvsp: ENSP00000424938.1:p.Gly577Arg
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2020G>C
  hgvsp: ENSP00000424757.1:p.Gly674Arg
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1804G>C
  hgvsp: ENSP00000427653.1:p.Gly602Arg
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28778
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11189
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly674Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

4-170400689-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400689
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400689
    reference: chr 4
allele count: 2
allele frequency: 1.701924877035928e-5
allele num: 117514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1717-4A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1792-4A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1924-4A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2008-4A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1876-4A>G
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3484
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3347
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36625
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2008-4A>G
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

4-170400698-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400698
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400697
    reference: chr 4
allele count: 1
allele frequency: 8.631702517004453e-6
allele num: 115852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1924-14delA
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1876-14delA
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2008-14delA
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1792-14delA
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1717-14delA
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AT
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

4-170400711-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400711
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400711
    reference: chr 4
allele count: 1
allele frequency: 8.757794437048973e-6
allele num: 114184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1924-26G>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1717-26G>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2008-26G>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1792-26G>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1876-26G>A
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

4-170400715-AGGGATTTTATATTTGTATGAAGAAATAAAATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400715
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400683
    reference: chr 4
allele count: 1
allele frequency: 8.805297266835728e-6
allele num: 113568
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11292
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8934
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: AGGGATTTTATATTTGTATGAAGAAATAAAATG
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

4-170400717-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400717
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400717
    reference: chr 4
allele count: 11
allele frequency: 9.714739909917867e-5
allele num: 113230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1876-32C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1924-32C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1792-32C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1717-32C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2008-32C>A
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16994
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

4-170400730-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400730
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400730
    reference: chr 4
allele count: 1
allele frequency: 9.169264624977077e-6
allele num: 109060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1924-45C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1792-45C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1876-45C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1717-45C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2008-45C>A
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6274
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

4-170400731-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170400731
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170400731
    reference: chr 4
allele count: 2
allele frequency: 1.856045139017781e-5
allele num: 107756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1792-46A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1717-46A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1924-46A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1876-46A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2008-46A>G
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8545
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

4-170428141-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428141
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428141
    reference: chr 4
allele count: 3
allele frequency: 3.709657474959812e-5
allele num: 80870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1923+47A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1716+47A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1875+47A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1791+47A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2007+47A>G
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18065
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7679
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5001
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

4-170428147-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428147
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428147
    reference: chr 4
allele count: 9
allele frequency: 1.106140307752814e-4
allele num: 81364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2007+41A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1923+41A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1791+41A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1716+41A>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1875+41A>G
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17992
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16496
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5746
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7673
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4987
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

4-170428150-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428150
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428150
    reference: chr 4
allele count: 14
allele frequency: 1.716653996125267e-4
allele num: 81554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1875+38A>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1923+38A>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1791+38A>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1716+38A>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2007+38A>T
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17866
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16548
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4966
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7653
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5569
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

4-170428162-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428162
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428162
    reference: chr 4
allele count: 1
allele frequency: 1.190873148192255e-5
allele num: 83972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1716+26C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1875+26C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1923+26C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2007+26C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1791+26C>A
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14683
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4458
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

4-170428186-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428186
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428186
    reference: chr 4
allele count: 1
allele frequency: 1.046988860038529e-5
allele num: 95512
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1716+2T>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1875+2T>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2007+2T>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1923+2T>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1791+2T>C
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
hgvs: c.2007+2T>C
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

4-170428194-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428194
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428194
    reference: chr 4
allele count: 2
allele frequency: 2.001961922684231e-5
allele num: 99902
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1710A>G
  hgvsp: ENST00000512193.1:c.1710A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1785A>G
  hgvsp: ENST00000510533.1:c.1785A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1869A>G
  hgvsp: ENST00000511633.1:c.1869A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1917A>G
  hgvsp: ENST00000439128.2:c.1917A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.2001A>G
  hgvsp: ENST00000507142.1:c.2001A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu667Glu
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

4-170428197-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428197
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428197
    reference: chr 4
allele count: 2
allele frequency: 1.974294683224418e-5
allele num: 101302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1866G>C
  hgvsp: ENSP00000423332.1:p.Trp622Cys
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1782G>C
  hgvsp: ENSP00000427653.1:p.Trp594Cys
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1998G>C
  hgvsp: ENSP00000424757.1:p.Trp666Cys
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1914G>C
  hgvsp: ENSP00000408020.2:p.Trp638Cys
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1707G>C
  hgvsp: ENSP00000424938.1:p.Trp569Cys
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36057
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp666Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

4-170428200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428200
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428200
    reference: chr 4
allele count: 2
allele frequency: 1.945638850516567e-5
allele num: 102794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1911G>A
  hgvsp: ENST00000439128.2:c.1911G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1995G>A
  hgvsp: ENST00000507142.1:c.1995G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1779G>A
  hgvsp: ENST00000510533.1:c.1779G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1863G>A
  hgvsp: ENST00000511633.1:c.1863G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1704G>A
  hgvsp: ENST00000512193.1:c.1704G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3391
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val665Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/4-170428201-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428201
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428201
    reference: chr 4
allele count: 1
allele frequency: 9.693115949052983e-6
allele num: 103166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1862T>G
  hgvsp: ENSP00000423332.1:p.Val621Gly
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1910T>G
  hgvsp: ENSP00000408020.2:p.Val637Gly
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1994T>G
  hgvsp: ENSP00000424757.1:p.Val665Gly
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1778T>G
  hgvsp: ENSP00000427653.1:p.Val593Gly
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1703T>G
  hgvsp: ENSP00000424938.1:p.Val568Gly
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val665Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

4-170428202-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428202
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428201
    reference: chr 4
allele count: 11
allele frequency: 1.076658053402239e-4
allele num: 102168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1701delA
  hgvsp: ENSP00000424938.1:p.Val568CysfsTer34
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1860delA
  hgvsp: ENSP00000423332.1:p.Val621CysfsTer34
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1908delA
  hgvsp: ENSP00000408020.2:p.Val637CysfsTer34
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1776delA
  hgvsp: ENSP00000427653.1:p.Val593CysfsTer34
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1992delA
  hgvsp: ENSP00000424757.1:p.Val665CysfsTer34
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30342
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8692
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val665CysfsTer34
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: CT
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

4-170428209-TTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428209
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428207
    reference: chr 4
allele count: 1
allele frequency: 9.328706295011009e-6
allele num: 107196
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1900_1901delGA
  hgvsp: ENSP00000408020.2:p.Glu634LysfsTer11
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1768_1769delGA
  hgvsp: ENSP00000427653.1:p.Glu590LysfsTer11
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1693_1694delGA
  hgvsp: ENSP00000424938.1:p.Glu565LysfsTer11
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1852_1853delGA
  hgvsp: ENSP00000423332.1:p.Glu618LysfsTer11
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1984_1985delGA
  hgvsp: ENSP00000424757.1:p.Glu662LysfsTer11
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39986
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu662LysfsTer11
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: TTC
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/4-170428221-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428221
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428221
    reference: chr 4
allele count: 2
allele frequency: 1.812973639363284e-5
allele num: 110316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1890T>G
  hgvsp: ENST00000439128.2:c.1890T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1758T>G
  hgvsp: ENST00000510533.1:c.1758T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1683T>G
  hgvsp: ENST00000512193.1:c.1683T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1974T>G
  hgvsp: ENST00000507142.1:c.1974T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1842T>G
  hgvsp: ENST00000511633.1:c.1842T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5966
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala658Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

4-170428234-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428234
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428234
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 110570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1829A>T
  hgvsp: ENSP00000423332.1:p.Lys610Met
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1877A>T
  hgvsp: ENSP00000408020.2:p.Lys626Met
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1745A>T
  hgvsp: ENSP00000427653.1:p.Lys582Met
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1670A>T
  hgvsp: ENSP00000424938.1:p.Lys557Met
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1961A>T
  hgvsp: ENSP00000424757.1:p.Lys654Met
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6255
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys654Met
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

4-170428238-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428238
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428238
    reference: chr 4
allele count: 2
allele frequency: 1.816827455896514e-5
allele num: 110082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1873C>T
  hgvsp: ENSP00000408020.2:p.Arg625Ter
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1666C>T
  hgvsp: ENSP00000424938.1:p.Arg556Ter
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1741C>T
  hgvsp: ENSP00000427653.1:p.Arg581Ter
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1957C>T
  hgvsp: ENSP00000424757.1:p.Arg653Ter
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1825C>T
  hgvsp: ENSP00000423332.1:p.Arg609Ter
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg653Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

4-170428241-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428241
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428241
    reference: chr 4
allele count: 9
allele frequency: 8.166079918702137e-5
allele num: 110212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1738G>C
  hgvsp: ENSP00000427653.1:p.Glu580Gln
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1954G>C
  hgvsp: ENSP00000424757.1:p.Glu652Gln
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1663G>C
  hgvsp: ENSP00000424938.1:p.Glu555Gln
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1870G>C
  hgvsp: ENSP00000408020.2:p.Glu624Gln
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1822G>C
  hgvsp: ENSP00000423332.1:p.Glu608Gln
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33469
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu652Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

4-170428241-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428241
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428241
    reference: chr 4
allele count: 1
allele frequency: 9.073422131891263e-6
allele num: 110212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1738G>A
  hgvsp: ENSP00000427653.1:p.Glu580Lys
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1822G>A
  hgvsp: ENSP00000423332.1:p.Glu608Lys
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1663G>A
  hgvsp: ENSP00000424938.1:p.Glu555Lys
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1954G>A
  hgvsp: ENSP00000424757.1:p.Glu652Lys
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1870G>A
  hgvsp: ENSP00000408020.2:p.Glu624Lys
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6729
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3720
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu652Lys
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

4-170428253-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428253
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428253
    reference: chr 4
allele count: 14
allele frequency: 1.277675360943289e-4
allele num: 109574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1726A>G
  hgvsp: ENSP00000427653.1:p.Lys576Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1858A>G
  hgvsp: ENSP00000408020.2:p.Lys620Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1942A>G
  hgvsp: ENSP00000424757.1:p.Lys648Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1810A>G
  hgvsp: ENSP00000423332.1:p.Lys604Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1651A>G
  hgvsp: ENSP00000424938.1:p.Lys551Glu
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32619
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys648Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP

4-170428259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428259
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428259
    reference: chr 4
allele count: 2
allele frequency: 1.837965005146302e-5
allele num: 108816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1804G>A
  hgvsp: ENSP00000423332.1:p.Val602Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1936G>A
  hgvsp: ENSP00000424757.1:p.Val646Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1645G>A
  hgvsp: ENSP00000424938.1:p.Val549Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1720G>A
  hgvsp: ENSP00000427653.1:p.Val574Ile
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1852G>A
  hgvsp: ENSP00000408020.2:p.Val618Ile
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31750
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val646Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

4-170428265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428265
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428265
    reference: chr 4
allele count: 1
allele frequency: 9.306134603930912e-6
allele num: 107456
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1930G>A
  hgvsp: ENSP00000424757.1:p.Ala644Thr
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1798G>A
  hgvsp: ENSP00000423332.1:p.Ala600Thr
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1846G>A
  hgvsp: ENSP00000408020.2:p.Ala616Thr
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1714G>A
  hgvsp: ENSP00000427653.1:p.Ala572Thr
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1639G>A
  hgvsp: ENSP00000424938.1:p.Ala547Thr
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39576
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala644Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

4-170428266-A-ATTATAATTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428266
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428276
    reference: chr 4
allele count: 1
allele frequency: 9.342825644187828e-6
allele num: 107034
alternate allele: ATTATAATTTT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsp: ENSP00000424938.1:p.Ala547LysfsTer3
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsp: ENSP00000424757.1:p.Ala644LysfsTer3
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsp: ENSP00000427653.1:p.Ala572LysfsTer3
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsp: ENSP00000408020.2:p.Ala616LysfsTer3
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsp: ENSP00000423332.1:p.Ala600LysfsTer3
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10631
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala644LysfsTer3
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

4-170428267-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428267
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428269
    reference: chr 4
allele count: 1
allele frequency: 9.402207638353486e-6
allele num: 106358
alternate allele: CTT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1843_1844insAA
  hgvsp: ENSP00000408020.2:p.Arg615GlnfsTer6
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1636_1637insAA
  hgvsp: ENSP00000424938.1:p.Arg546GlnfsTer6
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1927_1928insAA
  hgvsp: ENSP00000424757.1:p.Arg643GlnfsTer6
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1711_1712insAA
  hgvsp: ENSP00000427653.1:p.Arg571GlnfsTer6
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1795_1796insAA
  hgvsp: ENSP00000423332.1:p.Arg599GlnfsTer6
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 10244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg643GlnfsTer6
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

4-170428267-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428267
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428267
    reference: chr 4
allele count: 4
allele frequency: 3.760883055341394e-5
allele num: 106358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1796G>A
  hgvsp: ENSP00000423332.1:p.Arg599His
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1928G>A
  hgvsp: ENSP00000424757.1:p.Arg643His
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1712G>A
  hgvsp: ENSP00000427653.1:p.Arg571His
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1637G>A
  hgvsp: ENSP00000424938.1:p.Arg546His
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1844G>A
  hgvsp: ENSP00000408020.2:p.Arg615His
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10244
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37664
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg643His
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

4-170428270-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428270
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428270
    reference: chr 4
allele count: 1
allele frequency: 9.501909883886661e-6
allele num: 105242
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1925C>A
  hgvsp: ENSP00000424757.1:p.Ala642Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1709C>A
  hgvsp: ENSP00000427653.1:p.Ala570Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1841C>A
  hgvsp: ENSP00000408020.2:p.Ala614Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1634C>A
  hgvsp: ENSP00000424938.1:p.Ala545Glu
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1793C>A
  hgvsp: ENSP00000423332.1:p.Ala598Glu
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala642Glu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

4-170428291-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428291
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428291
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 92700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1621-8A>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1912-8A>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1696-8A>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1828-8A>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1780-8A>T
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21572
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2564
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1912-8A>T
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-170428293-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428293
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428293
    reference: chr 4
allele count: 1
allele frequency: 1.044190126138167e-5
allele num: 95768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1780-10T>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1912-10T>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1828-10T>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1696-10T>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1621-10T>C
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10373
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/4-170428297-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428297
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428297
    reference: chr 4
allele count: 1
allele frequency: 1.074852745173911e-5
allele num: 93036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1696-14G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1828-14G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1912-14G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1780-14G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1621-14G>T
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

4-170428301-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428301
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428301
    reference: chr 4
allele count: 1
allele frequency: 1.082461951462406e-5
allele num: 92382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1780-18A>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1912-18A>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1621-18A>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1696-18A>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1828-18A>C
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 12487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
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genotype quality: GenotypeQuality
  all individuals: 274
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
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genotype quality: GenotypeQuality
  all individuals: 3381
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genotype quality: GenotypeQuality
  all individuals: 426
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genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 525
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genotype quality: GenotypeQuality
  all individuals: 30582
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genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

4-170428308-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428308
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428308
    reference: chr 4
allele count: 1
allele frequency: 1.138226188308141e-5
allele num: 87856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1828-25T>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1780-25T>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1621-25T>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1696-25T>C
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1912-25T>C
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23723
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/4-170428316-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428316
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428316
    reference: chr 4
allele count: 127
allele frequency: 1.683590953681364e-3
allele num: 75434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1828-33G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1780-33G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1912-33G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1696-33G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1621-33G>T
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14866
  bin: 7.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20084
  bin: 1.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8447
  bin: 1.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 13913
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 28465
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4781
  bin: 6.25e1
  variant carriers: 2
num of homozygotes: 2
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

4-170428323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428323
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428323
    reference: chr 4
allele count: 3
allele frequency: 8.269474612712939e-5
allele num: 36278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1696-40C>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1828-40C>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1621-40C>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1780-40C>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1912-40C>T
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23134
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12040
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12780
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24126
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 156
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9194
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 118
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genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

4-170428326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428326
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428326
    reference: chr 4
allele count: 1
allele frequency: 2.964719833975689e-5
allele num: 33730
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1912-43C>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1780-43C>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1696-43C>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1828-43C>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1621-43C>T
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10550
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24602
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
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genotype quality: GenotypeQuality
  all individuals: 2201
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10828
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genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4628
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

4-170428327-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428327
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428327
    reference: chr 4
allele count: 1
allele frequency: 3.334667200213418e-5
allele num: 29988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1696-44C>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1621-44C>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1828-44C>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1912-44C>G
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1780-44C>G
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27762
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

4-170428328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428328
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428328
    reference: chr 4
allele count: 0
allele frequency: 0.0e0
allele num: 26644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1828-45C>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1696-45C>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1780-45C>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1912-45C>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1621-45C>T
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24253
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3493
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26686
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5669
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4909
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7356
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/4-170428329-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428329
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428329
    reference: chr 4
allele count: 1
allele frequency: 4.791566842357451e-5
allele num: 20870
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1912-46G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1828-46G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1780-46G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1696-46G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1621-46G>T
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10321
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5424
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3807
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23358
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10698
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

4-170428331-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428331
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428331
    reference: chr 4
allele count: 7917
allele frequency: 3.084625574690252e-1
allele num: 25666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1780-48C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1912-48C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1696-48C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1828-48C>A
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1621-48C>A
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 2.25e1
  variant carriers: 602
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 1.75e1
  variant carriers: 1320
genotype depth: GenotypeDepth
  all individuals: 24597
  bin: 7.5e0
  variant carriers: 6257
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 3.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 9172
  bin: 1.25e1
  variant carriers: 3190
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 9533
  bin: 2.5e0
  variant carriers: 1165
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 2.75e1
  variant carriers: 286
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.25e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.75e1
  variant carriers: 116
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 136
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 9.25e1
  variant carriers: 359
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.75e1
  variant carriers: 416
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 3.75e1
  variant carriers: 340
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.25e1
  variant carriers: 510
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 304
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 7.25e1
  variant carriers: 325
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 9.75e1
  variant carriers: 5442
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 2.75e1
  variant carriers: 641
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 6.75e1
  variant carriers: 369
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 1.75e1
  variant carriers: 815
genotype quality: GenotypeQuality
  all individuals: 10356
  bin: 2.5e0
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 6.25e1
  variant carriers: 422
genotype quality: GenotypeQuality
  all individuals: 4070
  bin: 1.25e1
  variant carriers: 502
genotype quality: GenotypeQuality
  all individuals: 16786
  bin: 7.5e0
  variant carriers: 413
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 8.25e1
  variant carriers: 507
num of homozygotes: 1274
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-170428332-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428332
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428331
    reference: chr 4
allele count: 1
allele frequency: 5.963029218843172e-5
allele num: 16770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1828-50delC
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1621-50delC
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1780-50delC
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1696-50delC
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1912-50delC
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12099
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: AG
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

4-170428816-CTCAGCTTTCAATTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428816
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428802
    reference: chr 4
allele count: 1
allele frequency: 8.696257130930847e-6
allele num: 114992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 14136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4894
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3947
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3045
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12710
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: CTCAGCTTTCAATTT
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

4-170428834-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428834
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428835
    reference: chr 4
allele count: 3
allele frequency: 2.584869894881958e-5
allele num: 116060
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1695+31dupA
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1911+31dupA
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1620+31dupA
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1779+31dupA
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1827+31dupA
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11172
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25069
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/4-170428843-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 170428843
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 170428843
    reference: chr 4
allele count: 15406
allele frequency: 1.31007857410116e-1
allele num: 117596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424938
  ensembl transcript: ENST00000512193
  gene symbol: NEK1
  hgvsc: ENST00000512193.1:c.1620+23G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000427653
  ensembl transcript: ENST00000510533
  gene symbol: NEK1
  hgvsc: ENST00000510533.1:c.1695+23G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000423332
  ensembl transcript: ENST00000511633
  gene symbol: NEK1
  hgvsc: ENST00000511633.1:c.1779+23G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000424757
  ensembl transcript: ENST00000507142
  gene symbol: NEK1
  hgvsc: ENST00000507142.1:c.1911+23G>T
  variant of: http://identifiers.org/hgnc/7744
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137601
  ensembl protein: ENSP00000408020
  ensembl transcript: ENST00000439128
  gene symbol: NEK1
  hgvsc: ENST00000439128.2:c.1827+23G>T
  variant of: http://identifiers.org/hgnc/7744
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 7.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 2.75e1
  variant carriers: 1780
genotype depth: GenotypeDepth
  all individuals: 24197
  bin: 2.25e1
  variant carriers: 1276
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 238
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.25e1
  variant carriers: 439
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.25e1
  variant carriers: 1466
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 3.25e1
  variant carriers: 1904
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 3.75e1
  variant carriers: 1752
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.75e1
  variant carriers: 1072
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 1.75e1
  variant carriers: 611
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 9.75e1
  variant carriers: 1188
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 1.25e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.25e1
  variant carriers: 742
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 268
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 5.75e1
  variant carriers: 574
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 9.25e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 8.25e1
  variant carriers: 69
num of homozygotes: 1472
reference allele: C

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3660
bin: 9.75e1
variant carriers: 100

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 87
allele frequency: 1.306659457511039e-3
allele num: 66582
num of homozygotes: 1

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

South Asian
type: Population
allele count: 11
allele frequency: 6.672328035909256e-4
allele num: 16486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.517911353976928e-4
allele num: 6588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.079e1

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

DP
type: SiteQuality
SIO_000300: 1.803664e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 1.928e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3575
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2531
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40115
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505722267279445e-5
allele num: 66582
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.098e1

MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
SIO_000300: 3.166e0

DP
type: SiteQuality
SIO_000300: 1.799327e6

MQRankSum
type: SiteQuality
SIO_000300: -1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.33e-1

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2168
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.037667071688943e-4
allele num: 6584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.403268445085316e-4
allele num: 66576
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.799566e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.781e0

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

QD
type: SiteQuality
SIO_000300: 1.205e1

FS
type: SiteQuality
SIO_000300: 1.103e0

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

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.799566e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.781e0

FS
type: SiteQuality
SIO_000300: 1.103e0

GenotypeQuality
all individuals: 2168
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40060
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3560
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.678e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e0

FS
type: SiteQuality
SIO_000300: 8.692e0

QD
type: SiteQuality
SIO_000300: 1.62e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -1.014e0

DP
type: SiteQuality
SIO_000300: 1.798555e6

MQ
type: SiteQuality
SIO_000300: 5.015e1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8619
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.746114894360049e-4
allele num: 11454
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.766e0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

DP
type: SiteQuality
SIO_000300: 1.798267e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 5.058e0

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39964
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

DP
type: SiteQuality
SIO_000300: 1.797946e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.591e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

QD
type: SiteQuality
SIO_000300: 9.06e0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e-1

GenotypeQuality
all individuals: 816
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 68
allele frequency: 4.121711722633046e-3
allele num: 16498
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

DP
type: SiteQuality
SIO_000300: 1.800706e6

QD
type: SiteQuality
SIO_000300: 1.262e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
all individuals: 601
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39952
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3530
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.797421e6

FS
type: SiteQuality
SIO_000300: 2.161e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 225
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3529
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.022704029453876e-4
allele num: 9778
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: 66572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.82e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.47e0

DP
type: SiteQuality
SIO_000300: 1.797497e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.71e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

GenotypeQuality
all individuals: 2525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3527
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39986
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.511e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

DP
type: SiteQuality
SIO_000300: 1.797581e6

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.29e-1

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8622
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3528
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.322340919647004e-4
allele num: 8612
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.506e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.21e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 1.797399e6

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 600
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3526
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2515
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.023122570083896e-4
allele num: 9774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.079e0

DP
type: SiteQuality
SIO_000300: 1.797426e6

QD
type: SiteQuality
SIO_000300: 1.066e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40041
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3526
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2515
bin: 7.75e1
variant carriers: 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 count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.004627125773691e-5
allele num: 66564
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.079e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

QD
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SIO_000300: 1.066e1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

DP
type: SiteQuality
SIO_000300: 1.797426e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9774
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East Asian
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allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.066e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 7.079e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

DP
type: SiteQuality
SIO_000300: 1.797426e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele count: 11
allele frequency: 9.628851540616247e-4
allele num: 11424
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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DP
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.819e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.338e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

Latino
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allele count: 6
allele frequency: 5.253940455341507e-4
allele num: 11420
num of homozygotes: 0

African
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allele count: 0
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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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FS
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MQ
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.399999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.796804e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
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SIO_000300: 1.72e0

BaseQRankSum
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SIO_000300: -4.559e0

DP
type: SiteQuality
SIO_000300: 1.796704e6

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

FS
type: SiteQuality
SIO_000300: 3.482e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.808e0

QD
type: SiteQuality
SIO_000300: 1.258e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.023541453428864e-4
allele num: 9770
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: 6580
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.002e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.2159e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.796493e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.504e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503985561738607e-5
allele num: 66490
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16478
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9750
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

East Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.795247e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.016847172081829e-5
allele num: 66480
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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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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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66450
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Latino
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allele count: 1
allele frequency: 8.790436005625879e-5
allele num: 11376
num of homozygotes: 0

East Asian
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MQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
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Other
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VQSLOD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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QD
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MQ
type: SiteQuality
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ClippingRankSum
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DP
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FS
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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African
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European (Finnish)
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South Asian
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allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505570611261668e-5
allele num: 66420
num of homozygotes: 0

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

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

African
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allele frequency: 4.122011541632317e-4
allele num: 9704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
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: 6564
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

FS
type: SiteQuality
SIO_000300: 1.161e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.365e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

DP
type: SiteQuality
SIO_000300: 1.792776e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

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

GenotypeQuality
all individuals: 8427
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511167528032158e-5
allele num: 66174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.786006e6

FS
type: SiteQuality
SIO_000300: 4.67e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.996e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8385
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variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513912859175826e-5
allele num: 66054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.772e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.782869e6

MQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.227e1

GenotypeQuality
all individuals: 1088
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8371
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variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.542426261280358e-5
allele num: 66044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.526251526251526e-4
allele num: 6552
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.247e0

FS
type: SiteQuality
SIO_000300: 2.972e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.782848e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

GenotypeQuality
all individuals: 466
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64800
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.382086707956169e-4
allele num: 8396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.3e0

VQSLOD
type: SiteQuality
SIO_000300: -9.16e-2

DP
type: SiteQuality
SIO_000300: 1.730937e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

QD
type: SiteQuality
SIO_000300: 1.604e1

GenotypeQuality
all individuals: 7163
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5886
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2253
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variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569218215485045e-5
allele num: 63726
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 1.658673e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.02e1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.406e0

QD
type: SiteQuality
SIO_000300: 9.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
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GenotypeQuality
all individuals: 788
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595048968003318e-5
allele num: 62694
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.305999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.371e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.532e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 1.545364e6

QD
type: SiteQuality
SIO_000300: 6.92e0

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23709
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5330
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.605033384694402e-5
allele num: 62304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -7.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.647e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.338e1

DP
type: SiteQuality
SIO_000300: 1.499371e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.2465719272002e-4
allele num: 8022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.611551601882292e-4
allele num: 62052
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.034e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.476447e6

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 310
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.681746325384279e-5
allele num: 59462
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10750
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.002e0

FS
type: SiteQuality
SIO_000300: 2.106e0

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.356542e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

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

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 540
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 2
allele frequency: 2.665245202558635e-4
allele num: 7504
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58676
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

FS
type: SiteQuality
SIO_000300: 6.001e0

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

QD
type: SiteQuality
SIO_000300: 1.546e1

DP
type: SiteQuality
SIO_000300: 1.345536e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 344
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GenotypeQuality
all individuals: 472
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42866
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 5826
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.454590083456063e-4
allele num: 12222
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.373e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQRankSum
type: SiteQuality
SIO_000300: -4.42e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

DP
type: SiteQuality
SIO_000300: 1.008338e6

QD
type: SiteQuality
SIO_000300: 1.459e1

GenotypeQuality
all individuals: 342
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14225
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2679
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 9.17094644167278e-4
allele num: 5452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.270418095856123e-5
allele num: 43148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12292
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 2.132e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

DP
type: SiteQuality
SIO_000300: 1.022785e6

QD
type: SiteQuality
SIO_000300: 1.584e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 9.75e1
variant carriers: 15

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.155001155001155e-4
allele num: 43290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.464128843338214e-3
allele num: 5464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.54320987654321e-3
allele num: 648
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

DP
type: SiteQuality
SIO_000300: 1.031533e6

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.325e1

MQ
type: SiteQuality
SIO_000300: 5.897e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

GenotypeQuality
all individuals: 643
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.236436015565595e-5
allele num: 44714
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.387e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 1.11199e6

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.661e-1

GenotypeQuality
all individuals: 1441
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12717
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2962
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.451564828614009e-5
allele num: 13420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51756
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.551e0

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

DP
type: SiteQuality
SIO_000300: 1.292729e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

MQ
type: SiteQuality
SIO_000300: 5.868e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.545e0

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1058
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.672420124862284e-5
allele num: 54460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13754
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.454e1

MQRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

FS
type: SiteQuality
SIO_000300: 3.765e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.345282e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.907e1

VQSLOD
type: SiteQuality
SIO_000300: -1.415e-1

GenotypeQuality
all individuals: 998
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
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variant carriers: 2

GenotypeQuality
all individuals: 3280
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8656
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.78473962684489e-4
allele num: 7182
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.641e-1

FS
type: SiteQuality
SIO_000300: 1.345e0

DP
type: SiteQuality
SIO_000300: 1.362936e6

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.229e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.878e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

QD
type: SiteQuality
SIO_000300: 1.008e1

GenotypeQuality
all individuals: 1327
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 36983
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
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variant carriers: 0

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 635
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.745744096650192e-4
allele num: 7284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14018
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.074e0

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.032e1

VQSLOD
type: SiteQuality
SIO_000300: 6.860000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.931e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.379015e6

GenotypeQuality
all individuals: 193
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1507
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37091
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6212
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.771290916820179e-5
allele num: 56456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8742
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14040
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.215e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.383098e6

VQSLOD
type: SiteQuality
SIO_000300: 4.13e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3204
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variant carriers: 0

GenotypeQuality
all individuals: 355
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variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 3
allele frequency: 4.127682993946065e-4
allele num: 7268
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.161015431988256e-5
allele num: 55858
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.157894736842105e-4
allele num: 9500
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.196e0

VQSLOD
type: SiteQuality
SIO_000300: -1.362e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

FS
type: SiteQuality
SIO_000300: 6.406e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

DP
type: SiteQuality
SIO_000300: 1.411969e6

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

QD
type: SiteQuality
SIO_000300: 3.9e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 674
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variant carriers: 0

GenotypeQuality
all individuals: 189
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variant carriers: 0

GenotypeQuality
all individuals: 235
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GenotypeQuality
all individuals: 779
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8996
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.927126627874758e-5
allele num: 14436
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.854e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.188e1

FS
type: SiteQuality
SIO_000300: 3.885e0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.432217e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.291e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
all individuals: 924
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
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GenotypeQuality
all individuals: 187
bin: 8.75e1
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GenotypeQuality
all individuals: 796
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variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.28590674596655e-5
allele num: 60866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

DP
type: SiteQuality
SIO_000300: 1.470459e6

FS
type: SiteQuality
SIO_000300: 4.665e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3815
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9140
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.211e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.604e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.471949e6

GenotypeQuality
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3707
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60722
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.275835672365399e-4
allele num: 7838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14692
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.095290251916758e-4
allele num: 9130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

DP
type: SiteQuality
SIO_000300: 1.466203e6

MQ
type: SiteQuality
SIO_000300: 5.82e1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -2.143e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

QD
type: SiteQuality
SIO_000300: 7.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.119951040391676e-4
allele num: 14706
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.72e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

DP
type: SiteQuality
SIO_000300: 1.467276e6

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

FS
type: SiteQuality
SIO_000300: 1.891e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 820
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1332
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1130
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.799945600435197e-5
allele num: 14706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.467276e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 1.891e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14652
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.317343662065084e-4
allele num: 60414
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 1.092e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

FS
type: SiteQuality
SIO_000300: 1.197e0

DP
type: SiteQuality
SIO_000300: 1.457696e6

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 793
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variant carriers: 0

GenotypeQuality
all individuals: 40807
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7746
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.336892685531233e-5
allele num: 59936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.067e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

QD
type: SiteQuality
SIO_000300: 1.432e1

DP
type: SiteQuality
SIO_000300: 1.448635e6

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-1

GenotypeQuality
all individuals: 290
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 832
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variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 226
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GenotypeQuality
all individuals: 184
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variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.691017316017316e-5
allele num: 59136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14462
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.459999999999999e1

QD
type: SiteQuality
SIO_000300: 2.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 3.702e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.919e0

DP
type: SiteQuality
SIO_000300: 1.427306e6

MQRankSum
type: SiteQuality
SIO_000300: -1.984e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.278e0

VQSLOD
type: SiteQuality
SIO_000300: -2.611e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 715
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GenotypeQuality
all individuals: 1325
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.698081168279844e-5
allele num: 58890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.5e-1

MQ
type: SiteQuality
SIO_000300: 3.676e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.484e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.7285e1

DP
type: SiteQuality
SIO_000300: 1.419263e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.188e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 240
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.711039627677777e-5
allele num: 58444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14380
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

FS
type: SiteQuality
SIO_000300: 2.7386e1

MQ
type: SiteQuality
SIO_000300: 5.871e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 1.408993e6

VQSLOD
type: SiteQuality
SIO_000300: -1.013e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 351
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GenotypeQuality
all individuals: 480
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14380
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.007861318282604e-4
allele num: 9922
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.95987328405491e-4
allele num: 7576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58444
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.408993e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.16e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.871e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

FS
type: SiteQuality
SIO_000300: 2.7386e1

QD
type: SiteQuality
SIO_000300: 7.02e0

MQRankSum
type: SiteQuality
SIO_000300: -1.355e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 688
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GenotypeQuality
all individuals: 182
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.731002250302925e-5
allele num: 57770
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8876
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.853e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

DP
type: SiteQuality
SIO_000300: 1.389522e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.931e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 8.24e0

MQ
type: SiteQuality
SIO_000300: 5.844e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 183
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variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.866e1

QD
type: SiteQuality
SIO_000300: 7.5e-1

DP
type: SiteQuality
SIO_000300: 1.145595e6

VQSLOD
type: SiteQuality
SIO_000300: -4.12e0

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

FS
type: SiteQuality
SIO_000300: 2.145e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.696e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.357e0

GenotypeQuality
all individuals: 642
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28174
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52130
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.19019281123542e-4
allele num: 8402
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.128486e6

QD
type: SiteQuality
SIO_000300: 1.238e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

MQ
type: SiteQuality
SIO_000300: 5.845e1

VQSLOD
type: SiteQuality
SIO_000300: -2.115e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2278
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.2306177701206e-4
allele num: 8126
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5768
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50690
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.023e0

FS
type: SiteQuality
SIO_000300: 3.585e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 6.1e0

MQRankSum
type: SiteQuality
SIO_000300: -2.066e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.529e0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.68e-1

DP
type: SiteQuality
SIO_000300: 1.100339e6

MQ
type: SiteQuality
SIO_000300: 5.672e1

GenotypeQuality
all individuals: 2182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.236705416769726e-4
allele num: 8086
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7936
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.066005e6

VQSLOD
type: SiteQuality
SIO_000300: -5.23e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3

QD
type: SiteQuality
SIO_000300: 1.078e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.244e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.039e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

GenotypeQuality
all individuals: 2185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7198
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.601537475976938e-4
allele num: 6244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.245e1

QD
type: SiteQuality
SIO_000300: 7.53e0

VQSLOD
type: SiteQuality
SIO_000300: -2.317e0

MQRankSum
type: SiteQuality
SIO_000300: -1.093e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.656e0

DP
type: SiteQuality
SIO_000300: 1.003425e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

GenotypeQuality
all individuals: 1141
bin: 9.75e1
variant carriers: 120

GenotypeQuality
all individuals: 424
bin: 7.25e1
variant carriers: 3

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 416
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variant carriers: 3

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.516913054372337e-5
allele num: 39910
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 7.176175098672408e-4
allele num: 5574
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.742160278745645e-3
allele num: 574
num of homozygotes: 0

African
type: Population
allele count: 118
allele frequency: 1.660568533633549e-2
allele num: 7106
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.625150940141452e-5
allele num: 11594
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

DP
type: SiteQuality
SIO_000300: 9.27249e5

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

GenotypeQuality
all individuals: 291
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1889
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 831
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.098177026136613e-4
allele num: 18212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 4.537205081669691e-4
allele num: 2204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7220
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.057e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.239e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.96e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.445e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

QD
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 8.01888e5

GenotypeQuality
all individuals: 27926
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
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variant carriers: 0

GenotypeQuality
all individuals: 474
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GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1242
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.273504273504274e-4
allele num: 2340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7342
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQ
type: SiteQuality
SIO_000300: 5.766e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.40349e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.84e-2

QD
type: SiteQuality
SIO_000300: 1.463e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.805e-1

GenotypeQuality
all individuals: 851
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
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GenotypeQuality
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GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2812
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1976
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3146
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.652509652509653e-4
allele num: 1036
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.68e0

DP
type: SiteQuality
SIO_000300: 7.23406e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.84e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

VQSLOD
type: SiteQuality
SIO_000300: -2.126e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.069e0

MQRankSum
type: SiteQuality
SIO_000300: 2.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 899
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.245000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.13e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.052e1

DP
type: SiteQuality
SIO_000300: 7.1037e5

MQRankSum
type: SiteQuality
SIO_000300: -1.302e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.735e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.705e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.68e-1

GenotypeQuality
all individuals: 230
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 6.25e1
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GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1194
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5206
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.122011541632317e-4
allele num: 2426
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.34e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.274e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

MQ
type: SiteQuality
SIO_000300: 5.914e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.602e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

DP
type: SiteQuality
SIO_000300: 6.97483e5

GenotypeQuality
all individuals: 496
bin: 8.75e1
variant carriers: 442

GenotypeQuality
all individuals: 527
bin: 5.75e1
variant carriers: 508

GenotypeQuality
all individuals: 1081
bin: 3.25e1
variant carriers: 432

GenotypeQuality
all individuals: 598
bin: 4.75e1
variant carriers: 429

GenotypeQuality
all individuals: 3840
bin: 2.25e1
variant carriers: 906

Latino
type: Population
allele count: 181
allele frequency: 2.578347578347578e-1
allele num: 702
num of homozygotes: 17

South Asian
type: Population
allele count: 1272
allele frequency: 2.260931389975115e-1
allele num: 5626
num of homozygotes: 130

European (Non-Finnish)
type: Population
allele count: 3052
allele frequency: 2.607655502392344e-1
allele num: 11704
num of homozygotes: 304

African
type: Population
allele count: 2382
allele frequency: 6.417025862068966e-1
allele num: 3712
num of homozygotes: 727

Other
type: Population
allele count: 70
allele frequency: 2.845528455284553e-1
allele num: 246
num of homozygotes: 7

European (Finnish)
type: Population
allele count: 432
allele frequency: 2.07492795389049e-1
allele num: 2082
num of homozygotes: 37

East Asian
type: Population
allele count: 528
allele frequency: 3.312421580928482e-1
allele num: 1594
num of homozygotes: 52

DP
type: SiteQuality
SIO_000300: 6.48683e5

MQ
type: SiteQuality
SIO_000300: 5.868e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.46e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.643e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
all individuals: 5604
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.236705416769726e-4
allele num: 8086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.473e0

DP
type: SiteQuality
SIO_000300: 6.536e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.749999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.98e0

GenotypeQuality
all individuals: 247
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8284
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10964
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.338742393509128e-5
allele num: 15776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63124
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.354e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.740904e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 4.744e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 4.73e0

GenotypeQuality
all individuals: 718
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8308
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2257
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26169
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5245
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.707950158500989e-5
allele num: 63722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.565e0

QD
type: SiteQuality
SIO_000300: 1.039e1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

DP
type: SiteQuality
SIO_000300: 1.823487e6

MQ
type: SiteQuality
SIO_000300: 6.086e1