X-16657022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657022
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657022
    reference: chr 0
allele count: 2
allele frequency: 2.526081794528507e-5
allele num: 79174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+248C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+248C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.321C>T
  hgvsp: ENSP00000400431.1:p.Arg108Cys
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+248C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg108Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

X-16657022-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657022
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657022
    reference: chr 0
allele count: 4
allele frequency: 5.052163589057014e-5
allele num: 79174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.321C>A
  hgvsp: ENSP00000400431.1:p.Arg108Ser
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+248C>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+248C>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+248C>A
  variant of: http://identifiers.org/hgnc/2520
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17344
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg108Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

X-16657027-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657027
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657027
    reference: chr 0
allele count: 12
allele frequency: 1.52232103213366e-4
allele num: 78827
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+243A>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+243A>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.316A>C
  hgvsp: ENSP00000400431.1:p.Asp106Ala
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+243A>C
  variant of: http://identifiers.org/hgnc/2520
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16870
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19080
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7020
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp106Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

X-16657032-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657032
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657032
    reference: chr 0
allele count: 2
allele frequency: 2.548712263129054e-5
allele num: 78471
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+238A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+238A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.311A>G
  hgvsp: ENST00000455276.1:c.311A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+238A>G
  variant of: http://identifiers.org/hgnc/2520
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala104Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

X-16657034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657034
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657034
    reference: chr 0
allele count: 6
allele frequency: 7.667731629392971e-5
allele num: 78250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+236G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.309G>A
  hgvsp: ENSP00000400431.1:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+236G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+236G>A
  variant of: http://identifiers.org/hgnc/2520
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17903
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7954
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala104Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

X-16657035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657035
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657035
    reference: chr 0
allele count: 2
allele frequency: 2.558199027884369e-5
allele num: 78180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+235C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.308C>T
  hgvsp: ENST00000455276.1:c.308C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+235C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+235C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16216
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser103Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

X-16657039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657039
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657039
    reference: chr 0
allele count: 21
allele frequency: 2.693689071318625e-4
allele num: 77960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.304C>T
  hgvsp: ENSP00000400431.1:p.Pro102Leu
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+231C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+231C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+231C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17336
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15831
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro102Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

X-16657041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657041
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657041
    reference: chr 0
allele count: 1
allele frequency: 1.285909009078518e-5
allele num: 77766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.302C>T
  hgvsp: ENST00000455276.1:c.302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+229C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+229C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+229C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15680
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Cys101Cys
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

X-16657047-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657047
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657047
    reference: chr 0
allele count: 1
allele frequency: 1.291956280199478e-5
allele num: 77402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+223T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+223T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+223T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.296T>C
  hgvsp: ENST00000455276.1:c.296T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15219
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10014
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25714
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr99Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

X-16657076-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657076
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657076
    reference: chr 0
allele count: 1
allele frequency: 1.332924569798595e-5
allele num: 75023
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.267T>A
  hgvsp: ENSP00000400431.1:p.Ser90Thr
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+194T>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+194T>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+194T>A
  variant of: http://identifiers.org/hgnc/2520
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser90Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

X-16657101-CCAGAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657101
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657096
    reference: chr 0
allele count: 1
allele frequency: 1.364852322978654e-5
allele num: 73268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.259-22_259-18delCTCTG
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+164_1393+168delCTCTG
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+164_1393+168delCTCTG
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+164_1393+168delCTCTG
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4579
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: CCAGAG
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

X-16657102-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657102
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657102
    reference: chr 0
allele count: 1
allele frequency: 1.367016622922135e-5
allele num: 73152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.259-18G>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+168G>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+168G>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+168G>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

X-16657108-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657108
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657108
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 73144
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+162T>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+162T>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+162T>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.259-24T>G
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

X-16657112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657112
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657112
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 72585
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.259-28C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+158C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+158C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+158C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9941
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

X-16657121-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657121
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657121
    reference: chr 0
allele count: 70
allele frequency: 9.747131558427092e-4
allele num: 71816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+149C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+149C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+149C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.259-37C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 14622
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9318
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14136
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4546
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 9.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5880
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.25e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

X-16657121-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657121
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657121
    reference: chr 0
allele count: 3
allele frequency: 4.177342096468753e-5
allele num: 71816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+149C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+149C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.259-37C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+149C>G
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5880
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4546
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-16657127-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657127
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657127
    reference: chr 0
allele count: 1
allele frequency: 1.40417883621658e-5
allele num: 71216
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+143C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+143C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+143C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.259-43C>G
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7992
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6009
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7351
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4754
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

X-16657128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657128
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657128
    reference: chr 0
allele count: 1
allele frequency: 1.400109208518264e-5
allele num: 71423
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+142C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+142C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+142C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.259-44C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14187
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4780
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4546
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7717
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

X-16657220-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657220
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657220
    reference: chr 0
allele count: 19
allele frequency: 2.264519743036602e-4
allele num: 83903
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+50T>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.258+50T>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+50T>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+50T>A
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6398
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14263
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

X-16657221-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657221
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657219
    reference: chr 0
allele count: 1
allele frequency: 1.192406753791854e-5
allele num: 83864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.258+47_258+48delAT
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+47_1393+48delAT
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+47_1393+48delAT
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+47_1393+48delAT
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14255
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: CAT
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS

X-16657224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657224
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657224
    reference: chr 0
allele count: 5
allele frequency: 5.959049412437728e-5
allele num: 83906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+46C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.258+46C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+46C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+46C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10116
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5693
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3782
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

X-16657227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657227
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657227
    reference: chr 0
allele count: 1
allele frequency: 1.192947295588481e-5
allele num: 83826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.258+43G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+43G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+43G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+43G>A
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4042
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

X-16657233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657233
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657233
    reference: chr 0
allele count: 8
allele frequency: 9.503219215509253e-5
allele num: 84182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+37G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+37G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+37G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.258+37G>A
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12820
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

X-16657254-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657254
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657254
    reference: chr 0
allele count: 1
allele frequency: 1.164035945429995e-5
allele num: 85908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+16T>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.258+16T>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+16T>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+16T>G
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14391
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

X-16657260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657260
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657260
    reference: chr 0
allele count: 7
allele frequency: 8.09370194364471e-5
allele num: 86487
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+10C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+10C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.258+10C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+10C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4919
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14428
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

X-16657261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657261
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657261
    reference: chr 0
allele count: 2
allele frequency: 2.310242459946171e-5
allele num: 86571
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+9C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+9C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+9C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.258+9C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14434
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum

X-16657266-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657266
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657266
    reference: chr 0
allele count: 1
allele frequency: 1.150403791730898e-5
allele num: 86926
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1393+4A>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.258+4A>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1393+4A>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1393+4A>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 23414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14447
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1393+4A>T
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

X-16657290-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657290
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657290
    reference: chr 0
allele count: 1
allele frequency: 1.140484934194019e-5
allele num: 87682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.238A>G
  hgvsp: ENSP00000400431.1:p.Lys80Arg
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1373A>G
  hgvsp: ENSP00000401264.1:p.Lys458Arg
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1373A>G
  hgvsp: ENSP00000352222.4:p.Lys458Arg
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1373A>G
  hgvsp: ENSP00000369590.3:p.Lys458Arg
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14468
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys458Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

X-16657319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657319
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657319
    reference: chr 0
allele count: 1
allele frequency: 1.139769994415127e-5
allele num: 87737
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1344G>A
  hgvsp: ENSP00000369590.3:p.Met448Ile
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1344G>A
  hgvsp: ENSP00000401264.1:p.Met448Ile
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1344G>A
  hgvsp: ENSP00000352222.4:p.Met448Ile
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.209G>A
  hgvsp: ENSP00000400431.1:p.Met70Ile
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14470
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3086
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met448Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-16657321-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657321
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657321
    reference: chr 0
allele count: 1
allele frequency: 1.139769994415127e-5
allele num: 87737
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.207A>G
  hgvsp: ENSP00000400431.1:p.Met70Val
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1342A>G
  hgvsp: ENSP00000369590.3:p.Met448Val
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1342A>G
  hgvsp: ENSP00000401264.1:p.Met448Val
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1342A>G
  hgvsp: ENSP00000352222.4:p.Met448Val
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14470
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met448Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

X-16657321-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657321
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657321
    reference: chr 0
allele count: 1
allele frequency: 1.139769994415127e-5
allele num: 87737
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1342A>C
  hgvsp: ENSP00000401264.1:p.Met448Leu
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1342A>C
  hgvsp: ENSP00000369590.3:p.Met448Leu
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1342A>C
  hgvsp: ENSP00000352222.4:p.Met448Leu
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.207A>C
  hgvsp: ENSP00000400431.1:p.Met70Leu
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met448Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

X-16657333-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657333
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657333
    reference: chr 0
allele count: 3
allele frequency: 3.419154101275345e-5
allele num: 87741
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1330T>G
  hgvsp: ENSP00000352222.4:p.Leu444Val
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.195T>G
  hgvsp: ENSP00000400431.1:p.Leu66Val
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1330T>G
  hgvsp: ENSP00000401264.1:p.Leu444Val
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1330T>G
  hgvsp: ENSP00000369590.3:p.Leu444Val
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14472
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu444Val
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

X-16657335-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657335
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657335
    reference: chr 0
allele count: 1
allele frequency: 1.139718033758448e-5
allele num: 87741
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1328A>C
  hgvsp: ENSP00000369590.3:p.Asn443Thr
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1328A>C
  hgvsp: ENSP00000401264.1:p.Asn443Thr
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1328A>C
  hgvsp: ENSP00000352222.4:p.Asn443Thr
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.193A>C
  hgvsp: ENSP00000400431.1:p.Asn65Thr
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14472
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn443Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

X-16657337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657337
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657337
    reference: chr 0
allele count: 1
allele frequency: 1.139718033758448e-5
allele num: 87741
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1326C>T
  hgvsp: ENST00000443824.1:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1326C>T
  hgvsp: ENST00000359276.4:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.191C>T
  hgvsp: ENST00000455276.1:c.191C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1326C>T
  hgvsp: ENST00000380241.3:c.1326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14473
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly442Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-16657337-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657337
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657337
    reference: chr 0
allele count: 1
allele frequency: 1.139718033758448e-5
allele num: 87741
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.191C>G
  hgvsp: ENST00000455276.1:c.191C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1326C>G
  hgvsp: ENST00000380241.3:c.1326C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1326C>G
  hgvsp: ENST00000359276.4:c.1326C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1326C>G
  hgvsp: ENST00000443824.1:c.1326C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly442Gly
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

X-16657352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657352
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657352
    reference: chr 0
allele count: 2
allele frequency: 2.279617936033921e-5
allele num: 87734
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1311C>T
  hgvsp: ENST00000443824.1:c.1311C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.176C>T
  hgvsp: ENST00000455276.1:c.176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1311C>T
  hgvsp: ENST00000359276.4:c.1311C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1311C>T
  hgvsp: ENST00000380241.3:c.1311C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6080
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14479
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro437Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

X-16657352-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657352
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657352
    reference: chr 0
allele count: 7
allele frequency: 7.978662776118723e-5
allele num: 87734
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1311C>G
  hgvsp: ENST00000359276.4:c.1311C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1311C>G
  hgvsp: ENST00000380241.3:c.1311C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1311C>G
  hgvsp: ENST00000443824.1:c.1311C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.176C>G
  hgvsp: ENST00000455276.1:c.176C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14479
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6080
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro437Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

X-16657358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657358
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657358
    reference: chr 0
allele count: 1
allele frequency: 1.139886923217217e-5
allele num: 87728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.170T>C
  hgvsp: ENST00000455276.1:c.170T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1305T>C
  hgvsp: ENST00000380241.3:c.1305T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1305T>C
  hgvsp: ENST00000443824.1:c.1305T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1305T>C
  hgvsp: ENST00000359276.4:c.1305T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14476
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1659
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6078
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2709
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp435Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

X-16657389-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016657389
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016657388
    reference: chr 0
allele count: 21
allele frequency: 2.397068727384798e-4
allele num: 87607
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-24delA
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-24delA
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-24delA
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-24delA
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11021
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23075
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6016
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25340
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: GT
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

X-16669096-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669096
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669096
    reference: chr 0
allele count: 1
allele frequency: 1.198652714349072e-5
allele num: 83427
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11730T>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.-8-26A>C
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11730T>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11730T>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11730T>G
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

X-16669117-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669117
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669117
    reference: chr 0
allele count: 1
allele frequency: 1.183515989301015e-5
allele num: 84494
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11751T>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11751T>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11751T>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.-8-5A>T
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11751T>A
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24605
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 2.75e1
  variant carriers: 0
hgvs: c.-8-5A>T
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

X-16669120-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669120
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669120
    reference: chr 0
allele count: 1189
allele frequency: 1.402552669450539e-2
allele num: 84774
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11754T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11754T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.-8-2A>G
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11754T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11754T>C
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 5.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 12035
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 4.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 6.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 9.75e1
  variant carriers: 470
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 6.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 5.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 4.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 7.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24971
  bin: 9.75e1
  variant carriers: 1069
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5018
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 14588
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 5
hgvs: c.-8-2A>G
num of homozygotes: 53
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

X-16669123-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669123
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669123
    reference: chr 0
allele count: 5788
allele frequency: 6.800211478587793e-2
allele num: 85115
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11757G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11757G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11757G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11757G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.-7C>T
  variant of: http://identifiers.org/hgnc/1436
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 2.75e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 4.25e1
  variant carriers: 349
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 5.75e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 7.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 7.75e1
  variant carriers: 253
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 4.75e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 6.75e1
  variant carriers: 208
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 3.25e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 9.75e1
  variant carriers: 1670
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 7.25e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.25e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 8.75e1
  variant carriers: 271
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 6.25e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 3.75e1
  variant carriers: 347
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 2.25e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 5.25e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.25e1
  variant carriers: 267
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 2.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 9.25e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 13718
  bin: 6.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 8.25e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 26622
  bin: 9.75e1
  variant carriers: 4682
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 62
hgvs: c.-7C>T
num of homozygotes: 249
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

X-16669137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669137
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669137
    reference: chr 0
allele count: 1
allele frequency: 1.158949991307875e-5
allele num: 86285
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11771G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.8C>T
  hgvsp: ENSP00000369547.3:p.Thr3Ile
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11771G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11771G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11771G>A
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25417
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr3Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

X-16669144-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669144
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669144
    reference: chr 0
allele count: 1
allele frequency: 1.152591602217586e-5
allele num: 86761
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11778C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11778C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11778C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11778C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.15G>A
  hgvsp: ENST00000380200.3:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1436
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys5Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

X-16669158-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669158
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669158
    reference: chr 0
allele count: 1
allele frequency: 1.14432187485696e-5
allele num: 87388
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.29T>C
  hgvsp: ENSP00000369547.3:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11792A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11792A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11792A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11792A>G
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5287
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu10Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

X-16669166-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669166
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669166
    reference: chr 0
allele count: 1
allele frequency: 1.142230547813771e-5
allele num: 87548
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.37A>G
  hgvsp: ENSP00000369547.3:p.Ile13Val
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11800T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11800T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11800T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11800T>C
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17445
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25416
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile13Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

X-16669179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669179
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669179
    reference: chr 0
allele count: 1
allele frequency: 1.140706097074089e-5
allele num: 87665
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11813T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.50A>G
  hgvsp: ENSP00000369547.3:p.Tyr17Cys
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11813T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11813T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11813T>C
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr17Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-16669195-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669195
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669195
    reference: chr 0
allele count: 1
allele frequency: 1.140003876013178e-5
allele num: 87719
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11829A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11829A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.66T>C
  hgvsp: ENST00000380200.3:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11829A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11829A>G
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2419
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly22Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

X-16669205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669205
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669205
    reference: chr 0
allele count: 9
allele frequency: 1.026015185024738e-4
allele num: 87718
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11839G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11839G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.76C>T
  hgvsp: ENSP00000369547.3:p.Gln26Ter
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11839G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11839G>A
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25419
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln26Ter
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

X-16669207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669207
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669207
    reference: chr 0
allele count: 1
allele frequency: 1.139990880072959e-5
allele num: 87720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11841C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11841C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11841C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11841C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.78G>A
  hgvsp: ENST00000380200.3:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1436
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25416
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5309
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln26Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

X-16669231-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669231
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669231
    reference: chr 0
allele count: 11
allele frequency: 1.25509167874217e-4
allele num: 87643
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.102A>G
  hgvsp: ENST00000380200.3:c.102A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11865T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11865T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11865T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11865T>C
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25417
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu34Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

X-16669243-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669243
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669243
    reference: chr 0
allele count: 2
allele frequency: 2.285583680932518e-5
allele num: 87505
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11877A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11877A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.114T>C
  hgvsp: ENST00000380200.3:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11877A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11877A>G
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25416
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala38Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

X-16669252-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669252
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669252
    reference: chr 0
allele count: 1
allele frequency: 1.14590853358085e-5
allele num: 87267
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11886G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11886G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.123C>T
  hgvsp: ENST00000380200.3:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11886G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11886G>A
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25415
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro41Pro
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

X-16669264-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669264
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669264
    reference: chr 0
allele count: 3
allele frequency: 3.448949794787487e-5
allele num: 86983
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11898T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11898T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11898T>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.135A>G
  hgvsp: ENST00000380200.3:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11898T>C
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
hgvs: c.135A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

X-16669269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669269
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669269
    reference: chr 0
allele count: 2
allele frequency: 2.303404431750127e-5
allele num: 86828
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11903C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.135+5G>A
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11903C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11903C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11903C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 7.75e1
  variant carriers: 0
hgvs: c.135+5G>A
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

X-16669269-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669269
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669269
    reference: chr 0
allele count: 4
allele frequency: 4.606808863500254e-5
allele num: 86828
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11903C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11903C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11903C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.135+5G>C
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11903C>G
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14272
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 9.25e1
  variant carriers: 0
hgvs: c.135+5G>C
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

X-16669272-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669272
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669272
    reference: chr 0
allele count: 32
allele frequency: 3.689696522461027e-4
allele num: 86728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11906C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.135+8G>A
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11906C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11906C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11906C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10387
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9076
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 9.25e1
  variant carriers: 1
hgvs: c.135+8G>A
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum

X-16669273-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669273
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669273
    reference: chr 0
allele count: 1
allele frequency: 1.15377515229832e-5
allele num: 86672
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11907G>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.135+9C>G
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11907G>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11907G>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11907G>C
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25415
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

X-16669278-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669278
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669278
    reference: chr 0
allele count: 1
allele frequency: 1.155615133935794e-5
allele num: 86534
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11912G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11912G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.135+14C>T
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11912G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11912G>A
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25414
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

X-16669279-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669279
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669279
    reference: chr 0
allele count: 1
allele frequency: 1.156189661352048e-5
allele num: 86491
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11913C>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.135+15G>T
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11913C>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11913C>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11913C>A
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-16669279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669279
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669279
    reference: chr 0
allele count: 1
allele frequency: 1.156189661352048e-5
allele num: 86491
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.135+15G>A
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11913C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11913C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11913C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11913C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25411
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

X-16669282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669282
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669282
    reference: chr 0
allele count: 1
allele frequency: 1.156791523031719e-5
allele num: 86446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11916C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11916C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.135+18G>A
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11916C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11916C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

X-16669282-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669282
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669282
    reference: chr 0
allele count: 1
allele frequency: 1.156791523031719e-5
allele num: 86446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11916C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11916C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11916C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.135+18G>C
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11916C>G
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25411
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13287
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

X-16669300-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669300
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669300
    reference: chr 0
allele count: 3
allele frequency: 3.50910026669162e-5
allele num: 85492
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11934A>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11934A>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11934A>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.135+36T>A
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11934A>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25410
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

X-16669316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016669316
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016669316
    reference: chr 0
allele count: 1
allele frequency: 1.190532882518215e-5
allele num: 83996
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.135+52G>A
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.162-11950C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1297-11950C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1297-11950C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1297-11950C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2741
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7373
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

X-16672483-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016672483
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016672484
    reference: chr 0
allele count: 9
allele frequency: 1.087876223860752e-4
allele num: 82730
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.161+13153dupA
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.136-39dupT
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1296+13153dupA
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1296+13153dupA
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1296+13153dupA
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

X-16672516-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016672516
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016672516
    reference: chr 0
allele count: 1
allele frequency: 1.192193516851655e-5
allele num: 83879
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.161+13121A>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1296+13121A>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.136-12T>A
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1296+13121A>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1296+13121A>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3426
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

X-16672525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016672525
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016672525
    reference: chr 0
allele count: 1
allele frequency: 1.186718249353239e-5
allele num: 84266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.161+13112G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1296+13112G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.136-3C>T
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1296+13112G>A
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1296+13112G>A
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25731
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.75e1
  variant carriers: 0
hgvs: c.136-3C>T
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

X-16672528-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016672528
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016672528
    reference: chr 0
allele count: 2
allele frequency: 2.365520177887117e-5
allele num: 84548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.161+13109C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1296+13109C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1296+13109C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1296+13109C>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.136G>C
  hgvsp: ENSP00000369547.3:p.Gly46Arg
  variant of: http://identifiers.org/hgnc/1436
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40138
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly46Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

X-16672529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016672529
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016672529
    reference: chr 0
allele count: 3
allele frequency: 3.544967918040342e-5
allele num: 84627
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1296+13108C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.137G>A
  hgvsp: ENSP00000369547.3:p.Gly46Asp
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1296+13108C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.161+13108C>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1296+13108C>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40222
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly46Asp
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

X-16672545-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016672545
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016672545
    reference: chr 0
allele count: 1
allele frequency: 1.165772907437631e-5
allele num: 85780
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1296+13092A>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.153T>G
  hgvsp: ENSP00000369547.3:p.Asp51Glu
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1296+13092A>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.161+13092A>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1296+13092A>C
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1782
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp51Glu
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

X-16672561-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016672561
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016672561
    reference: chr 0
allele count: 1
allele frequency: 1.156871818602499e-5
allele num: 86440
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1296+13076G>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.169C>A
  hgvsp: ENSP00000369547.3:p.Leu57Met
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1296+13076G>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.161+13076G>T
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1296+13076G>T
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7232
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu57Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

X-16672572-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016672572
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016672572
    reference: chr 0
allele count: 1
allele frequency: 1.155201293825449e-5
allele num: 86565
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.161+13065A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1296+13065A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.180T>C
  hgvsp: ENST00000380200.3:c.180T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1296+13065A>G
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1296+13065A>G
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16556
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26235
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn60Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

X-16672578-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24016672578
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24016672578
    reference: chr 0
allele count: 1
allele frequency: 1.154614416515605e-5
allele num: 86609
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000169906
  ensembl protein: ENSP00000369547
  ensembl transcript: ENST00000380200
  gene symbol: S100G
  hgvsc: ENST00000380200.3:c.186T>G
  hgvsp: ENSP00000369547.3:p.Asp62Glu
  variant of: http://identifiers.org/hgnc/1436
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000369590
  ensembl transcript: ENST00000380241
  gene symbol: CTPS2
  hgvsc: ENST00000380241.3:c.1296+13059A>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000352222
  ensembl transcript: ENST00000359276
  gene symbol: CTPS2
  hgvsc: ENST00000359276.4:c.1296+13059A>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000401264
  ensembl transcript: ENST00000443824
  gene symbol: CTPS2
  hgvsc: ENST00000443824.1:c.1296+13059A>C
  variant of: http://identifiers.org/hgnc/2520
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047230
  ensembl protein: ENSP00000400431
  ensembl transcript: ENST00000455276
  gene symbol: CTPS2
  hgvsc: ENST00000455276.1:c.161+13059A>C
  variant of: http://identifiers.org/hgnc/2520
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp62Glu
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 2666
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4407
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.295631413420261e-5
allele num: 43561
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 565
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6401
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.111605157847932e-4
allele num: 8996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6679
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8565
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

DP
type: SiteQuality
SIO_000300: 1.465982e6

FS
type: SiteQuality
SIO_000300: 3.499e0

VQSLOD
type: SiteQuality
SIO_000300: -1.547e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

QD
type: SiteQuality
SIO_000300: 1.783e1

GenotypeQuality
all individuals: 563
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31937
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.182525653681045e-5
allele num: 43561
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6401
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6679
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 565
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4407
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8565
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.783e1

FS
type: SiteQuality
SIO_000300: 3.499e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

DP
type: SiteQuality
SIO_000300: 1.465982e6

VQSLOD
type: SiteQuality
SIO_000300: -1.547e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

GenotypeQuality
all individuals: 2074
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 7.25e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.49947518368571e-4
allele num: 6669
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8967
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 2.534503813276192e-4
allele num: 43401
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.44643e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

QD
type: SiteQuality
SIO_000300: 1.915e1

GenotypeQuality
all individuals: 1166
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2657
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 603
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.406738868832732e-4
allele num: 8310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 561
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6363
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4369
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8938
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.618000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.533e0

QD
type: SiteQuality
SIO_000300: 1.877e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 1.431036e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

GenotypeQuality
all individuals: 28174
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2660
bin: 9.75e1
variant carriers: 6

East Asian
type: Population
allele count: 6
allele frequency: 9.438414346389807e-4
allele num: 6357
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 561
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

DP
type: SiteQuality
SIO_000300: 1.426214e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

QD
type: SiteQuality
SIO_000300: 1.369e1

FS
type: SiteQuality
SIO_000300: 3.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 5821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 866
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6347
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.635638791025404e-5
allele num: 43144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8223
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.914e1

FS
type: SiteQuality
SIO_000300: 2.247e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.377e0

VQSLOD
type: SiteQuality
SIO_000300: -1.834e0

DP
type: SiteQuality
SIO_000300: 1.423737e6

QD
type: SiteQuality
SIO_000300: 2.005e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

GenotypeQuality
all individuals: 223
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2662
bin: 9.75e1
variant carriers: 20

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8893
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 4.876349703935911e-4
allele num: 43065
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4327
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 563
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6657
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6347
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.41044e6

QD
type: SiteQuality
SIO_000300: 1.506e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.97e-1

FS
type: SiteQuality
SIO_000300: 1.852e0

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

GenotypeQuality
all individuals: 594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5621
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6645
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6331
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.326014142165985e-5
allele num: 42992
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.871e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.959e0

DP
type: SiteQuality
SIO_000300: 1.405348e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.404e0

GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1958
bin: 7.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6665
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7867
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4301
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 557
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6319
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.332960059723778e-5
allele num: 42864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8829
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.3855e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.301e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.117e-1

GenotypeQuality
all individuals: 507
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 539
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6225
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6645
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.38504102270559e-5
allele num: 41928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6839
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4213
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.021e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

FS
type: SiteQuality
SIO_000300: 2.201e0

DP
type: SiteQuality
SIO_000300: 1.297545e6

QD
type: SiteQuality
SIO_000300: 1.279e1

GenotypeQuality
all individuals: 1357
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2622
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41217
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6123
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.42600679281902e-4
allele num: 4122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.279e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.57e1

FS
type: SiteQuality
SIO_000300: 2.5877e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.592e0

QD
type: SiteQuality
SIO_000300: 9.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.504e0

DP
type: SiteQuality
SIO_000300: 1.207195e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

GenotypeQuality
all individuals: 665
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14921
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.429071123202487e-5
allele num: 41168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6141
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4109
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6092
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.203552e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.132e0

FS
type: SiteQuality
SIO_000300: 1.449e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

QD
type: SiteQuality
SIO_000300: 5.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

GenotypeQuality
all individuals: 1007
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6137
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 523
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8473
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4103
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.356e1

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

DP
type: SiteQuality
SIO_000300: 1.184414e6

GenotypeQuality
all individuals: 4494
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15030
bin: 2.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40961
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6691
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6095
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8413
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4079
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

QD
type: SiteQuality
SIO_000300: 2.41e1

VQSLOD
type: SiteQuality
SIO_000300: -5.106000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.161857e6

GenotypeQuality
all individuals: 974
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 560
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 453
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 65
allele frequency: 9.631056452807823e-3
allele num: 6749
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5615
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.82392667631452e-4
allele num: 8292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6008
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.462205150933176e-5
allele num: 40614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4036
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

DP
type: SiteQuality
SIO_000300: 1.135261e6

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.61e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.263e0

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

GenotypeQuality
all individuals: 987
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14136
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6749
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4036
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6008
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 5.342831700801424e-4
allele num: 5615
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.135261e6

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.08e-2

FS
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.61e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.263e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

GenotypeQuality
all individuals: 988
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3997
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.686909581646424e-4
allele num: 5928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5491
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.688e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

DP
type: SiteQuality
SIO_000300: 1.123908e6

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 4.802e0

GenotypeQuality
all individuals: 562
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6012
bin: 3.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5937
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.216989168796398e-4
allele num: 8217
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6805
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.823e-1

FS
type: SiteQuality
SIO_000300: 2.782e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

QD
type: SiteQuality
SIO_000300: 7.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.132e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.124578e6

GenotypeQuality
all individuals: 293
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1988
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.094690749863164e-4
allele num: 9135
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8375
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4489
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.247696111485727e-4
allele num: 8898
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.666666666666667e-3
allele num: 600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 3.258178026847387e-4
allele num: 46038
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.858899e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.292e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

FS
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

QD
type: SiteQuality
SIO_000300: 1.81e1

GenotypeQuality
all individuals: 2233
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46028
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.194457716196847e-4
allele num: 8372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9139
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6363
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8880
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

DP
type: SiteQuality
SIO_000300: 1.860462e6

MQ
type: SiteQuality
SIO_000300: 6.036e1

QD
type: SiteQuality
SIO_000300: 1.432e1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.02e-1

FS
type: SiteQuality
SIO_000300: 3.081e0

GenotypeQuality
all individuals: 3916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14261
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 284
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8373
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 601
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8907
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4487
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.085870651088042e-4
allele num: 46046
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.872e0

FS
type: SiteQuality
SIO_000300: 1.133e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

QD
type: SiteQuality
SIO_000300: 1.848e1

DP
type: SiteQuality
SIO_000300: 1.867473e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1383
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2008
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14273
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 597
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46026
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4485
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.095770326539557e-4
allele num: 9126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8375
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8845
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.875582e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.688e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.287e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.416e0

QD
type: SiteQuality
SIO_000300: 2.013e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 242
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14291
bin: 9.75e1
variant carriers: 7

South Asian
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: 4491
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 8.744125040988086e-4
allele num: 9149
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 603
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8387
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.904201e6

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 2.535e0

QD
type: SiteQuality
SIO_000300: 1.441e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.653e0

GenotypeQuality
all individuals: 5575
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4517
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 621
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6531
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.080964220084315e-4
allele num: 9251
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

FS
type: SiteQuality
SIO_000300: 2.197e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.561e1

DP
type: SiteQuality
SIO_000300: 2.023545e6

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

GenotypeQuality
all individuals: 24175
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2584
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47434
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6571
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.077934677158564e-4
allele num: 9277
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 6.259127894846651e-4
allele num: 9586
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.320000000000001e-2

QD
type: SiteQuality
SIO_000300: 2.005e1

DP
type: SiteQuality
SIO_000300: 2.049495e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.237e0

MQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.244e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.81e-1

GenotypeQuality
all individuals: 24317
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.422821760283061e-4
allele num: 4522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6581
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9611
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.052796e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.39e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 6.14e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

GenotypeQuality
all individuals: 25000
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3057
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47656
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.021e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

VQSLOD
type: SiteQuality
SIO_000300: -3.499e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.289e0

MQRankSum
type: SiteQuality
SIO_000300: -1.135e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.46e-2

QD
type: SiteQuality
SIO_000300: 2.981e1

DP
type: SiteQuality
SIO_000300: 2.064935e6

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3691
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9313
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
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: 2.084810073802277e-5
allele num: 47966
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 7.51e-1

DP
type: SiteQuality
SIO_000300: 2.087822e6

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

QD
type: SiteQuality
SIO_000300: 1.971e1

GenotypeQuality
all individuals: 3696
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26686
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083984578514119e-5
allele num: 47985
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.396e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.08944e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 3.026e1

VQSLOD
type: SiteQuality
SIO_000300: 7.81e0

FS
type: SiteQuality
SIO_000300: 2.607e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

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

GenotypeQuality
all individuals: 3086
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6083
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083984578514119e-5
allele num: 47985
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.284e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e0

VQSLOD
type: SiteQuality
SIO_000300: 5.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.089543e6

FS
type: SiteQuality
SIO_000300: 1.803e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6083
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3086
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14470
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26683
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083984578514119e-5
allele num: 47985
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.75e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.803e0

DP
type: SiteQuality
SIO_000300: 2.089543e6

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3698
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47987
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.519433564326605e-4
allele num: 6638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.316000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.723e1

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

QD
type: SiteQuality
SIO_000300: 2.589e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.089883e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6085
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.207505518763797e-4
allele num: 4530
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.033e0

QD
type: SiteQuality
SIO_000300: 1.379e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.52e-1

FS
type: SiteQuality
SIO_000300: 2.769e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

DP
type: SiteQuality
SIO_000300: 2.089615e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

GenotypeQuality
all individuals: 2711
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26663
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3085
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083941149501938e-5
allele num: 47986
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.379e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.715e0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

FS
type: SiteQuality
SIO_000300: 3.251e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 2.089956e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
all individuals: 14473
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2267
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.174536058256989e-4
allele num: 8514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.379e1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.715e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

FS
type: SiteQuality
SIO_000300: 3.251e0

DP
type: SiteQuality
SIO_000300: 2.089956e6

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.084071441969031e-5
allele num: 47983
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.506477854775535e-4
allele num: 6638
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.025e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 1.279e1

QD
type: SiteQuality
SIO_000300: 1.71e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

DP
type: SiteQuality
SIO_000300: 2.090665e6

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3692
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47983
num of homozygotes: 0

South Asian
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: 4530
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 7.047216349541931e-4
allele num: 8514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.582278481012658e-3
allele num: 632
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.090665e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.003e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.279e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.025e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

QD
type: SiteQuality
SIO_000300: 1.71e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47983
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.072961373390558e-4
allele num: 9320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10111
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 2.949e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

DP
type: SiteQuality
SIO_000300: 2.089519e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 3084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14492
bin: 9.75e1
variant carriers: 18

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 3.962543535840164e-4
allele num: 47949
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.353494939985879e-4
allele num: 8498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.022e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-1

FS
type: SiteQuality
SIO_000300: 7.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

DP
type: SiteQuality
SIO_000300: 2.080003e6

QD
type: SiteQuality
SIO_000300: 1.765e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

GenotypeQuality
all individuals: 191
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24582
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 309
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7371
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.126845038070526e-5
allele num: 47018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.327153e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-1

FS
type: SiteQuality
SIO_000300: 2.6607e1

VQSLOD
type: SiteQuality
SIO_000300: -8.612e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.687e0

GenotypeQuality
all individuals: 14490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2845
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2293
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9295
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 599
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47335
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 1.134e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.124e0

VQSLOD
type: SiteQuality
SIO_000300: -8.28e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

QD
type: SiteQuality
SIO_000300: 1.342e1

DP
type: SiteQuality
SIO_000300: 2.365325e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2264
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3359
bin: 7.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2813
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 8

African
type: Population
allele count: 1088
allele frequency: 1.327152964137595e-1
allele num: 8198
num of homozygotes: 53

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 6.644518272425249e-3
allele num: 602
num of homozygotes: 0

Latino
type: Population
allele count: 69
allele frequency: 7.423345884884347e-3
allele num: 9295
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 5.485116347756377e-4
allele num: 47401
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6618
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.459419576979833e-4
allele num: 8132
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.499e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.356e-1

FS
type: SiteQuality
SIO_000300: 1.334e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.968e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 2.416632e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

GenotypeQuality
all individuals: 4824
bin: 6.75e1
variant carriers: 63

GenotypeQuality
all individuals: 93
bin: 7.5e0
variant carriers: 27

GenotypeQuality
all individuals: 317
bin: 2.75e1
variant carriers: 31

GenotypeQuality
all individuals: 1347
bin: 8.75e1
variant carriers: 64

GenotypeQuality
all individuals: 3212
bin: 7.75e1
variant carriers: 56

East Asian
type: Population
allele count: 1067
allele frequency: 1.614220877458396e-1
allele num: 6610
num of homozygotes: 55

Other
type: Population
allele count: 60
allele frequency: 9.917355371900827e-2
allele num: 605
num of homozygotes: 2

South Asian
type: Population
allele count: 884
allele frequency: 1.052631578947368e-1
allele num: 8398
num of homozygotes: 22

Latino
type: Population
allele count: 1856
allele frequency: 2.001509759516877e-1
allele num: 9273
num of homozygotes: 149

African
type: Population
allele count: 65
allele frequency: 7.896015549076773e-3
allele num: 8232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1668
allele frequency: 3.513724168439679e-2
allele num: 47471
num of homozygotes: 20

European (Finnish)
type: Population
allele count: 188
allele frequency: 4.15377817057004e-2
allele num: 4526
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 3.601e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.536e-1

DP
type: SiteQuality
SIO_000300: 2.597544e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.462e0

FS
type: SiteQuality
SIO_000300: 4.113e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

QD
type: SiteQuality
SIO_000300: 1.763e1

GenotypeQuality
all individuals: 3395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6633
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9313
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.095733087433984e-5
allele num: 47716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8347
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.538982e6

MQRankSum
type: SiteQuality
SIO_000300: -7.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.988e1

FS
type: SiteQuality
SIO_000300: 3.094e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.809e0

VQSLOD
type: SiteQuality
SIO_000300: 5.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

QD
type: SiteQuality
SIO_000300: 1.802e1

GenotypeQuality
all individuals: 25416
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.073191672032625e-4
allele num: 9318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -3.13e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.947e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

FS
type: SiteQuality
SIO_000300: 8.27e0

QD
type: SiteQuality
SIO_000300: 1.535e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.595e0

DP
type: SiteQuality
SIO_000300: 2.547297e6

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

GenotypeQuality
all individuals: 2248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25417
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8443
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47926
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.01010101010101e-4
allele num: 9900
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.560622e6

QD
type: SiteQuality
SIO_000300: 3.268e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.09e-2

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3407
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9323
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8465
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.085679723021733e-5
allele num: 47946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.565e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 2.564326e6

FS
type: SiteQuality
SIO_000300: 1.2927e1

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

GenotypeQuality
all individuals: 2309
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25415
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5305
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.084853539038883e-5
allele num: 47965
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.885e0

VQSLOD
type: SiteQuality
SIO_000300: -4.439e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 2.566319e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 1.741e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.304e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25415
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2844
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.506477854775535e-4
allele num: 6638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9323
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.613e1

FS
type: SiteQuality
SIO_000300: 3.899e0

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

DP
type: SiteQuality
SIO_000300: 2.567528e6

GenotypeQuality
all individuals: 2312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47971
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 8.902957760411514e-4
allele num: 10109
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.855e0

DP
type: SiteQuality
SIO_000300: 2.568516e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.76e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.137e-1

QD
type: SiteQuality
SIO_000300: 1.738e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47971
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10109
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.506477854775535e-4
allele num: 6638
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.112e1

FS
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.036e0

VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 2.567795e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.007e0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2845
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17429
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10047
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 1.180004290924694e-3
allele num: 9322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47958
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

DP
type: SiteQuality
SIO_000300: 2.566673e6

MQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.704e-1

QD
type: SiteQuality
SIO_000300: 1.652e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2298
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.172838991007532e-5
allele num: 47929
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.198e1

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

DP
type: SiteQuality
SIO_000300: 2.560125e6

FS
type: SiteQuality
SIO_000300: 1.552e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.098e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9771
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 627
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.175088131609871e-4
allele num: 8510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9319
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.698e0

FS
type: SiteQuality
SIO_000300: 4.274e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.550421e6

QD
type: SiteQuality
SIO_000300: 1.249e1

GenotypeQuality
all individuals: 2841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25416
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5182
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.276675872457946e-5
allele num: 47796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9583
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8497
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9319
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.15e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.825e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

DP
type: SiteQuality
SIO_000300: 2.538341e6

FS
type: SiteQuality
SIO_000300: 6.867e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: -2.345e0

QD
type: SiteQuality
SIO_000300: 2.369e1

GenotypeQuality
all individuals: 240
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14272
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25414
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9315
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.188569394123437e-5
allele num: 47749
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.79e-1

DP
type: SiteQuality
SIO_000300: 2.530192e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

QD
type: SiteQuality
SIO_000300: 1.42e1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

GenotypeQuality
all individuals: 3381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25414
bin: 9.75e1
variant carriers: 4

East Asian
type: Population
allele count: 4
allele frequency: 6.027727546714888e-4
allele num: 6636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9315
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47749
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.42e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.530192e6

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

GenotypeQuality
all individuals: 25429
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 5124
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 621
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9315
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8477
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47721
num of homozygotes: 0

South Asian
type: Population
allele count: 32
allele frequency: 3.393785130978895e-3
allele num: 9429
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.174e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.715e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

DP
type: SiteQuality
SIO_000300: 2.527438e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.392e0

QD
type: SiteQuality
SIO_000300: 1.833e1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

GenotypeQuality
all individuals: 3379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.095864858633915e-5
allele num: 47713
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8477
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9315
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9381
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 621
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.853e1

DP
type: SiteQuality
SIO_000300: 2.526558e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.034e0

FS
type: SiteQuality
SIO_000300: 4.423e0

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.501e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2840
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.073652566029633e-4
allele num: 9314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8457
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6631
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47686
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.521654e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

FS
type: SiteQuality
SIO_000300: 8.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.245e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 2.624e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.89e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -2.741e0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25411
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.097359424484574e-5
allele num: 47679
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8455
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9267
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

QD
type: SiteQuality
SIO_000300: 1.743e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

DP
type: SiteQuality
SIO_000300: 2.521023e6

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 7.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.345e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

GenotypeQuality
all individuals: 93
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8455
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9267
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47679
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.073883161512027e-4
allele num: 9312
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 1.743e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.345e0

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

DP
type: SiteQuality
SIO_000300: 2.521023e6

GenotypeQuality
all individuals: 2282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25411
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5081
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2838
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.097799408420567e-5
allele num: 47669
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8435
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6631
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9253
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.764e0

MQRankSum
type: SiteQuality
SIO_000300: 2.57e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.98e-1

QD
type: SiteQuality
SIO_000300: 2.179e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.445e0

DP
type: SiteQuality
SIO_000300: 2.516724e6

VQSLOD
type: SiteQuality
SIO_000300: -2.762e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

GenotypeQuality
all individuals: 2282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.097799408420567e-5
allele num: 47669
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6631
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9253
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8435
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.98e-1

QD
type: SiteQuality
SIO_000300: 2.179e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.445e0

MQRankSum
type: SiteQuality
SIO_000300: 2.57e0

FS
type: SiteQuality
SIO_000300: 1.764e0

DP
type: SiteQuality
SIO_000300: 2.516724e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.762e0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4932
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47379
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.224419604471195e-4
allele num: 9304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8921
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8115
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 613
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.771e0

VQSLOD
type: SiteQuality
SIO_000300: -1.478e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 2.035e1

DP
type: SiteQuality
SIO_000300: 2.497261e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.12e-1

GenotypeQuality
all individuals: 3116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3980
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25405
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7939
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8201
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 599
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46833
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: -2.367e0

DP
type: SiteQuality
SIO_000300: 2.501814e6

QD
type: SiteQuality
SIO_000300: 2.461e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 8.29e-1

FS
type: SiteQuality
SIO_000300: 4.3e0

GenotypeQuality
all individuals: 35371
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 464
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.079330814894765e-4
allele num: 9265
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46725
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.514463122822959e-4
allele num: 6603
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.379219535551831e-4
allele num: 8354
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 3.481e1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e-1

FS
type: SiteQuality
SIO_000300: 2.136e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.668455e6

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 144
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 593
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6617
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.123367661110521e-5
allele num: 47095
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 6.69e-1

DP
type: SiteQuality
SIO_000300: 1.704779e6

MQRankSum
type: SiteQuality
SIO_000300: -1.522e0

FS
type: SiteQuality
SIO_000300: 8.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.299e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.08e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

GenotypeQuality
all individuals: 2919
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 148
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8403
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6621
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9293
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.117163847310143e-5
allele num: 47233
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.958e0

QD
type: SiteQuality
SIO_000300: 9.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.819e1

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

DP
type: SiteQuality
SIO_000300: 1.713484e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.604e-1

GenotypeQuality
all individuals: 1773
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9295
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 4.415011037527594e-4
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 603
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7770
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: -1.607e0

MQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.96e-1

QD
type: SiteQuality
SIO_000300: 2.513e1

FS
type: SiteQuality
SIO_000300: 1.666e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.19e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 1.717077e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3423
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 613
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7143
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.338474540460596e-5
allele num: 47330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6623
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9297
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 603
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 4.783e0

DP
type: SiteQuality
SIO_000300: 1.718359e6

VQSLOD
type: SiteQuality
SIO_000300: 4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

QD
type: SiteQuality
SIO_000300: 1.562e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.039e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

GenotypeQuality
all individuals: 3421
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41389
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7207
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8453
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47573
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.508295625942685e-4
allele num: 6630
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.54e-2

DP
type: SiteQuality
SIO_000300: 1.737009e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.056e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

QD
type: SiteQuality
SIO_000300: 2.975e1

MQ
type: SiteQuality
SIO_000300: 5.851e1

VQSLOD
type: SiteQuality
SIO_000300: -2.331e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

GenotypeQuality
all individuals: 1180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42280
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3422
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47713
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9311
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9161
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.508068164681044e-4
allele num: 6631
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.07e-1

QD
type: SiteQuality
SIO_000300: 2.797e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.77e-2

FS
type: SiteQuality
SIO_000300: 1.935e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

DP
type: SiteQuality
SIO_000300: 1.749059e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
all individuals: 1786
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42210
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.095337873232059e-5
allele num: 47725
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9269
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8475
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

FS
type: SiteQuality
SIO_000300: 9.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.13e1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.751085e6