2-231256917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256917
    reference: chr 2
allele count: 16
allele frequency: 1.362444224939541e-4
allele num: 117436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1080C>T
  hgvsp: ENST00000243810.6:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1080C>T
  hgvsp: ENST00000415673.2:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.209C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.975C>T
  hgvsp: ENST00000396563.4:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1080C>T
  hgvsp: ENST00000444636.1:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.559C>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26229
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5839
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly360Gly
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

2-231256918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256918
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256918
    reference: chr 2
allele count: 2
allele frequency: 1.703809718530634e-5
allele num: 117384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.560G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1081G>A
  hgvsp: ENSP00000243810.6:p.Gly361Arg
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1081G>A
  hgvsp: ENSP00000395195.1:p.Gly361Arg
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1081G>A
  hgvsp: ENSP00000397911.2:p.Gly361Arg
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.976G>A
  hgvsp: ENSP00000379811.4:p.Gly326Arg
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.210G>A
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26207
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly361Arg
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

2-231256919-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256919
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256919
    reference: chr 2
allele count: 2
allele frequency: 1.65708320214758e-5
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.561G>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1082G>T
  hgvsp: ENSP00000397911.2:p.Gly361Val
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1082G>T
  hgvsp: ENSP00000243810.6:p.Gly361Val
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.211G>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.977G>T
  hgvsp: ENSP00000379811.4:p.Gly326Val
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1082G>T
  hgvsp: ENSP00000395195.1:p.Gly361Val
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly361Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

2-231256921-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256921
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256921
    reference: chr 2
allele count: 1
allele frequency: 9.474003334849174e-6
allele num: 105552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1084T>A
  hgvsp: ENSP00000395195.1:p.Trp362Arg
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.213T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1084T>A
  hgvsp: ENSP00000243810.6:p.Trp362Arg
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1084T>A
  hgvsp: ENSP00000397911.2:p.Trp362Arg
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.563T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.979T>A
  hgvsp: ENSP00000379811.4:p.Trp327Arg
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Trp362Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-231256921-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256921
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256921
    reference: chr 2
allele count: 1718
allele frequency: 1.627633772927088e-2
allele num: 105552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1084T>G
  hgvsp: ENSP00000243810.6:p.Trp362Gly
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.213T>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1084T>G
  hgvsp: ENSP00000397911.2:p.Trp362Gly
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.979T>G
  hgvsp: ENSP00000379811.4:p.Trp327Gly
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1084T>G
  hgvsp: ENSP00000395195.1:p.Trp362Gly
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.563T>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 7.25e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 6.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 9.25e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 4456
  bin: 5.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 5.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 8.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 9.75e1
  variant carriers: 1006
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 7.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 6.75e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 8.75e1
  variant carriers: 131
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 4.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 9.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.5e0
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 8.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 2.75e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 7.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 1.75e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 14424
  bin: 6.25e1
  variant carriers: 52
genotype quality: GenotypeQuality
  all individuals: 5124
  bin: 2.5e0
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 2.25e1
  variant carriers: 84
hgvs: p.Trp362Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

2-231256924-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256924
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256924
    reference: chr 2
allele count: 650
allele frequency: 5.42525665637259e-3
allele num: 119810
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1087C>G
  hgvsp: ENSP00000243810.6:p.Pro363Ala
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1087C>G
  hgvsp: ENSP00000397911.2:p.Pro363Ala
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.216C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1087C>G
  hgvsp: ENSP00000395195.1:p.Pro363Ala
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.982C>G
  hgvsp: ENSP00000379811.4:p.Pro328Ala
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.566C>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 7.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 8.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7275
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6450
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 8.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 6.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 9.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 9.75e1
  variant carriers: 362
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 5.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 6.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 4166
  bin: 7.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 8.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.5e0
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 20
hgvs: p.Pro363Ala
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-231256925-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256925
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256925
    reference: chr 2
allele count: 2
allele frequency: 1.657769967839263e-5
allele num: 120644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.567C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.983C>G
  hgvsp: ENSP00000379811.4:p.Pro328Arg
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1088C>G
  hgvsp: ENSP00000243810.6:p.Pro363Arg
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1088C>G
  hgvsp: ENSP00000395195.1:p.Pro363Arg
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.217C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1088C>G
  hgvsp: ENSP00000397911.2:p.Pro363Arg
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro363Arg
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-231256928-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256928
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256928
    reference: chr 2
allele count: 2
allele frequency: 1.660274609420398e-5
allele num: 120462
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1091T>C
  hgvsp: ENSP00000397911.2:p.Leu364Pro
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1091T>C
  hgvsp: ENSP00000395195.1:p.Leu364Pro
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.986T>C
  hgvsp: ENSP00000379811.4:p.Leu329Pro
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.570T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.220T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1091T>C
  hgvsp: ENSP00000243810.6:p.Leu364Pro
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu364Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-231256930-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256930
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256930
    reference: chr 2
allele count: 2
allele frequency: 1.657934876318058e-5
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1093C>A
  hgvsp: ENST00000415673.2:c.1093C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1093C>A
  hgvsp: ENST00000243810.6:c.1093C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.572C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1093C>A
  hgvsp: ENST00000444636.1:c.1093C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.988C>A
  hgvsp: ENST00000396563.4:c.988C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.222C>A
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17607
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7979
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg365Arg
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

2-231256930-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256930
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256930
    reference: chr 2
allele count: 3
allele frequency: 2.486902314477087e-5
allele num: 120632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.988C>T
  hgvsp: ENSP00000379811.4:p.Arg330Ter
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1093C>T
  hgvsp: ENSP00000397911.2:p.Arg365Ter
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.222C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.572C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1093C>T
  hgvsp: ENSP00000395195.1:p.Arg365Ter
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1093C>T
  hgvsp: ENSP00000243810.6:p.Arg365Ter
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7093
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7979
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg365Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-231256931-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256931
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256931
    reference: chr 2
allele count: 3
allele frequency: 2.487067250298448e-5
allele num: 120624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.223G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.573G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.989G>A
  hgvsp: ENSP00000379811.4:p.Arg330Gln
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1094G>A
  hgvsp: ENSP00000243810.6:p.Arg365Gln
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1094G>A
  hgvsp: ENSP00000395195.1:p.Arg365Gln
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1094G>A
  hgvsp: ENSP00000397911.2:p.Arg365Gln
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg365Gln
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

2-231256933-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256933
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256933
    reference: chr 2
allele count: 13
allele frequency: 1.077747011324634e-4
allele num: 120622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.225C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1096C>T
  hgvsp: ENSP00000243810.6:p.Arg366Trp
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.575C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1096C>T
  hgvsp: ENSP00000395195.1:p.Arg366Trp
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.991C>T
  hgvsp: ENSP00000379811.4:p.Arg331Trp
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1096C>T
  hgvsp: ENSP00000397911.2:p.Arg366Trp
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4233
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg366Trp
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

2-231256934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256934
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256934
    reference: chr 2
allele count: 241
allele frequency: 1.99797715176336e-3
allele num: 120622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.992G>A
  hgvsp: ENSP00000379811.4:p.Arg331Gln
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1097G>A
  hgvsp: ENSP00000243810.6:p.Arg366Gln
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.226G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1097G>A
  hgvsp: ENSP00000395195.1:p.Arg366Gln
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1097G>A
  hgvsp: ENSP00000397911.2:p.Arg366Gln
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.576G>A
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 9.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17652
  bin: 9.75e1
  variant carriers: 237
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg366Gln
num of homozygotes: 3
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

2-231256941-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256941
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256941
    reference: chr 2
allele count: 2
allele frequency: 1.658182300562124e-5
allele num: 120614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1104G>A
  hgvsp: ENSP00000243810.6:p.Met368Ile
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.233G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1104G>A
  hgvsp: ENSP00000397911.2:p.Met368Ile
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.583G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1104G>A
  hgvsp: ENSP00000395195.1:p.Met368Ile
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.999G>A
  hgvsp: ENSP00000379811.4:p.Met333Ile
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17534
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3418
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7955
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Met368Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-231256946-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256946
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256946
    reference: chr 2
allele count: 7
allele frequency: 5.834889303814351e-5
allele num: 119968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1107+2T>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1107+2T>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1002+2T>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.236+2T>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.586+2T>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1107+2T>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17125
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1107+2T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-231256960-G-GGTTCCTGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256960
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256968
    reference: chr 2
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: GGTTCCTGT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-231256964-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256964
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256964
    reference: chr 2
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.236+20C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.586+20C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1107+20C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1002+20C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1107+20C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1107+20C>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17405
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/2-231256965-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256965
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256965
    reference: chr 2
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.236+21C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1002+21C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.586+21C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1107+21C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1107+21C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1107+21C>A
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17404
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum

2-231256965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256965
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256965
    reference: chr 2
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.586+21C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1107+21C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.236+21C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1002+21C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1107+21C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1107+21C>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3335
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

2-231256968-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256968
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256968
    reference: chr 2
allele count: 2
allele frequency: 1.659695943703114e-5
allele num: 120504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1107+24A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.236+24A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1107+24A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1002+24A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1107+24A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.586+24A>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4581
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17400
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 7793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4166
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-231256990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256990
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256990
    reference: chr 2
allele count: 2
allele frequency: 1.674060433581652e-5
allele num: 119470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1002+46C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1107+46C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.586+46C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1107+46C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1107+46C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.236+46C>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 3374
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
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genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17383
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2425
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
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genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 97
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genotype quality: GenotypeQuality
  all individuals: 1892
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3998
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6171
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ

2-231256991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231256991
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231256991
    reference: chr 2
allele count: 1
allele frequency: 8.384900471231407e-6
allele num: 119262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1107+47C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1107+47C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1107+47C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.586+47C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.236+47C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1002+47C>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1744
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 2.75e1
  variant carriers: 0
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: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

2-231258090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258090
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258090
    reference: chr 2
allele count: 5
allele frequency: 8.730269590724962e-5
allele num: 57272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1003-39C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1108-39C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.587-39C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1108-39C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1108-39C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.237-39C>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 19561
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

2-231258091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258091
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258091
    reference: chr 2
allele count: 1
allele frequency: 1.742949768187681e-5
allele num: 57374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.237-38G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1108-38G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1108-38G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.587-38G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1108-38G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1003-38G>A
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24424
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2892
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-231258102-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258102
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258102
    reference: chr 2
allele count: 1
allele frequency: 1.683841853573112e-5
allele num: 59388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1108-27A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1108-27A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.587-27A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1003-27A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.237-27A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1108-27A>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11007
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4053
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 8484
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

2-231258104-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258104
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258104
    reference: chr 2
allele count: 1
allele frequency: 1.676783258995942e-5
allele num: 59638
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1108-25G>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.237-25G>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.587-25G>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1108-25G>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1003-25G>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1108-25G>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1337
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 452
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genotype quality: GenotypeQuality
  all individuals: 312
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2051
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

2-231258112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258112
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258112
    reference: chr 2
allele count: 1
allele frequency: 1.621481385393696e-5
allele num: 61672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1003-17G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.587-17G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1108-17G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.237-17G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1108-17G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1108-17G>A
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9519
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3486
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-231258114-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258114
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258114
    reference: chr 2
allele count: 1
allele frequency: 1.611084259706783e-5
allele num: 62070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.587-15C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1108-15C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.237-15C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1003-15C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1108-15C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1108-15C>A
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9389
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8485
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3774
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-231258126-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258126
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258126
    reference: chr 2
allele count: 2
allele frequency: 3.06063110213326e-5
allele num: 65346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1108-3C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1108-3C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1108-3C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.587-3C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.237-3C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1003-3C>A
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25146
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1108-3C>A
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

2-231258127-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258127
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258127
    reference: chr 2
allele count: 1
allele frequency: 1.518649009840846e-5
allele num: 65848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1108-2A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.587-2A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.237-2A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1108-2A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1003-2A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1108-2A>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25016
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8488
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1108-2A>G
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-231258130-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258130
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258130
    reference: chr 2
allele count: 1
allele frequency: 1.496289202777113e-5
allele num: 66832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.588A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.238A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1109A>T
  hgvsp: ENSP00000395195.1:p.Glu370Val
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1109A>T
  hgvsp: ENSP00000397911.2:p.Glu370Val
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1004A>T
  hgvsp: ENSP00000379811.4:p.Glu335Val
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1109A>T
  hgvsp: ENSP00000243810.6:p.Glu370Val
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu370Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-231258140-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258140
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258140
    reference: chr 2
allele count: 1
allele frequency: 1.455011058084041e-5
allele num: 68728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.248A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1014A>T
  hgvsp: ENST00000396563.4:c.1014A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1119A>T
  hgvsp: ENST00000415673.2:c.1119A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1119A>T
  hgvsp: ENST00000444636.1:c.1119A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1119A>T
  hgvsp: ENST00000243810.6:c.1119A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.598A>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24030
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu373Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-231258146-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258146
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258146
    reference: chr 2
allele count: 4
allele frequency: 5.732630130703967e-5
allele num: 69776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.604T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.254T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1125T>C
  hgvsp: ENST00000243810.6:c.1125T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1125T>C
  hgvsp: ENST00000444636.1:c.1125T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1020T>C
  hgvsp: ENST00000396563.4:c.1020T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1125T>C
  hgvsp: ENST00000415673.2:c.1125T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23620
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12285
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8498
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn375Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

2-231258150-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258150
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258150
    reference: chr 2
allele count: 41913
allele frequency: 4.637419783137862e-1
allele num: 90380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1024C>T
  hgvsp: ENSP00000379811.4:p.Pro342Ser
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.258C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1129C>T
  hgvsp: ENSP00000395195.1:p.Pro377Ser
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1129C>T
  hgvsp: ENSP00000397911.2:p.Pro377Ser
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1129C>T
  hgvsp: ENSP00000243810.6:p.Pro377Ser
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.608C>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 680
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.25e1
  variant carriers: 458
genotype depth: GenotypeDepth
  all individuals: 9736
  bin: 2.25e1
  variant carriers: 4616
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.25e1
  variant carriers: 432
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 404
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.25e1
  variant carriers: 1276
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 410
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 477
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 482
genotype depth: GenotypeDepth
  all individuals: 12481
  bin: 7.5e0
  variant carriers: 3728
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.25e1
  variant carriers: 517
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.5e0
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.75e1
  variant carriers: 456
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 1.75e1
  variant carriers: 8250
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 9.75e1
  variant carriers: 2935
genotype depth: GenotypeDepth
  all individuals: 11953
  bin: 1.25e1
  variant carriers: 8897
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 2.75e1
  variant carriers: 2332
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 393
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 6.75e1
  variant carriers: 406
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 397
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 4.25e1
  variant carriers: 574
genotype quality: GenotypeQuality
  all individuals: 2102
  bin: 2.5e0
  variant carriers: 144
genotype quality: GenotypeQuality
  all individuals: 26945
  bin: 9.75e1
  variant carriers: 25474
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 2.75e1
  variant carriers: 564
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 7.5e0
  variant carriers: 218
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.25e1
  variant carriers: 283
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 5.25e1
  variant carriers: 936
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 8.75e1
  variant carriers: 654
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.75e1
  variant carriers: 555
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 5.75e1
  variant carriers: 575
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.25e1
  variant carriers: 395
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 1.75e1
  variant carriers: 642
hgvs: p.Pro377Ser
num of homozygotes: 8569
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

2-231258164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258164
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258164
    reference: chr 2
allele count: 1
allele frequency: 1.44275161588181e-5
allele num: 69312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1143C>T
  hgvsp: ENST00000444636.1:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1143C>T
  hgvsp: ENST00000243810.6:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.272C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1038C>T
  hgvsp: ENST00000396563.4:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1143C>T
  hgvsp: ENST00000415673.2:c.1143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.622C>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr381Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-231258192-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258192
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258192
    reference: chr 2
allele count: 1
allele frequency: 1.666666666666667e-5
allele num: 60000
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1050+16T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1155+16T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1155+16T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.284+16T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1155+16T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.634+16T>C
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

2-231258196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258196
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258196
    reference: chr 2
allele count: 1
allele frequency: 1.742585299550413e-5
allele num: 57386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1155+20C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1155+20C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.284+20C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.634+20C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1050+20C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1155+20C>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8943
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9638
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4238
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4405
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2563
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

2-231258199-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258199
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258199
    reference: chr 2
allele count: 8
allele frequency: 1.423892923252172e-4
allele num: 56184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.634+23C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1155+23C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.284+23C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1050+23C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1155+23C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1155+23C>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13517
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10207
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

2-231258204-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258204
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258204
    reference: chr 2
allele count: 2
allele frequency: 3.665823527255398e-5
allele num: 54558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.284+28T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1050+28T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1155+28T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1155+28T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.634+28T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1155+28T>A
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22468
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22576
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-231258205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258205
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258205
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 54002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.284+29C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.634+29C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1155+29C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1050+29C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1155+29C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1155+29C>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22520
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22058
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2870
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

2-231258210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258210
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258210
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 51760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1155+34C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1155+34C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1050+34C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.634+34C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1155+34C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.284+34C>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10431
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4231
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4678
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12162
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-231258218-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258218
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258218
    reference: chr 2
allele count: 15093
allele frequency: 3.028047508225664e-1
allele num: 49844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1155+42A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.634+42A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1155+42A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1050+42A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1155+42A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.284+42A>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 2.75e1
  variant carriers: 760
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 2.25e1
  variant carriers: 932
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 1.75e1
  variant carriers: 1858
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 9.75e1
  variant carriers: 777
genotype depth: GenotypeDepth
  all individuals: 9400
  bin: 2.5e0
  variant carriers: 1016
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 399
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.25e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 11128
  bin: 1.25e1
  variant carriers: 5671
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 23723
  bin: 7.5e0
  variant carriers: 8572
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 3.25e1
  variant carriers: 727
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 607
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 6.75e1
  variant carriers: 345
genotype quality: GenotypeQuality
  all individuals: 8784
  bin: 7.5e0
  variant carriers: 372
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 1.75e1
  variant carriers: 1006
genotype quality: GenotypeQuality
  all individuals: 9711
  bin: 2.25e1
  variant carriers: 1180
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 1.25e1
  variant carriers: 453
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 3.25e1
  variant carriers: 616
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 8.75e1
  variant carriers: 750
genotype quality: GenotypeQuality
  all individuals: 4408
  bin: 2.5e0
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 384
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 6.25e1
  variant carriers: 718
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 5.75e1
  variant carriers: 644
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 2.75e1
  variant carriers: 783
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 4.25e1
  variant carriers: 200
num of homozygotes: 2228
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

2-231258219-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231258219
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231258219
    reference: chr 2
allele count: 1
allele frequency: 2.166002425922717e-5
allele num: 46168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.634+43G>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1155+43G>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.284+43G>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1155+43G>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1050+43G>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1155+43G>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9988
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6526
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6342
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13544
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13961
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

2-231261429-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261429
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261429
    reference: chr 2
allele count: 2
allele frequency: 1.688191103232886e-5
allele num: 118470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1156-43A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1051-43A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1156-43A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.635-43A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.285-43A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1156-43A>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11729
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-231261433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261433
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261433
    reference: chr 2
allele count: 2
allele frequency: 1.685743665818176e-5
allele num: 118642
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1156-39A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1156-39A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.285-39A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.635-39A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1051-39A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1156-39A>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

2-231261438-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261438
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261438
    reference: chr 2
allele count: 3
allele frequency: 2.526273241713824e-5
allele num: 118752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1156-34A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.635-34A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1156-34A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.285-34A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1051-34A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1156-34A>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12811
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4404
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11756
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 83
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

2-231261443-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261443
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261443
    reference: chr 2
allele count: 1
allele frequency: 8.410853365182432e-6
allele num: 118894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.285-29A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1156-29A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1156-29A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1156-29A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.635-29A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1051-29A>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6877
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-231261448-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261448
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261448
    reference: chr 2
allele count: 1
allele frequency: 8.393204861344255e-6
allele num: 119144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.635-24T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1156-24T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1051-24T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1156-24T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1156-24T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.285-24T>A
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-231261448-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261448
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261448
    reference: chr 2
allele count: 1
allele frequency: 8.393204861344255e-6
allele num: 119144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1156-24T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1051-24T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1156-24T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.285-24T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1156-24T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.635-24T>C
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11771
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22522
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-231261451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261451
    reference: chr 2
allele count: 1
allele frequency: 8.379420144126027e-6
allele num: 119340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1051-21A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1156-21A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.285-21A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1156-21A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1156-21A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.635-21A>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-231261451-ATCTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261447
    reference: chr 2
allele count: 1
allele frequency: 8.379420144126027e-6
allele num: 119340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.635-17_635-14delTTCT
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1156-17_1156-14delTTCT
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1156-17_1156-14delTTCT
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.285-17_285-14delTTCT
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1156-17_1156-14delTTCT
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1051-17_1051-14delTTCT
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23417
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11780
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: ATCTT
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

2-231261453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261453
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261453
    reference: chr 2
allele count: 1
allele frequency: 8.375349670848758e-6
allele num: 119398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.635-19C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1156-19C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.285-19C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1051-19C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1156-19C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1156-19C>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23520
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4600
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3264
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23499
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-231261468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261468
    reference: chr 2
allele count: 2
allele frequency: 1.66497394315779e-5
allele num: 120122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.285-4A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1156-4A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1156-4A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1156-4A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1051-4A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.635-4A>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11790
  bin: 9.75e1
  variant carriers: 2
hgvs: c.1156-4A>G
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-231261473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261473
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261473
    reference: chr 2
allele count: 13
allele frequency: 1.081117043394375e-4
allele num: 120246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1157G>A
  hgvsp: ENSP00000243810.6:p.Arg386Lys
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1052G>A
  hgvsp: ENSP00000379811.4:p.Arg351Lys
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1157G>A
  hgvsp: ENSP00000395195.1:p.Arg386Lys
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.286G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.636G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1157G>A
  hgvsp: ENSP00000397911.2:p.Arg386Lys
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14712
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg386Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

2-231261480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261480
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261480
    reference: chr 2
allele count: 1
allele frequency: 8.308408109006315e-6
allele num: 120360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1164G>A
  hgvsp: ENST00000243810.6:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.643G>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1059G>A
  hgvsp: ENST00000396563.4:c.1059G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1164G>A
  hgvsp: ENST00000444636.1:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1164G>A
  hgvsp: ENST00000415673.2:c.1164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.293G>A
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu388Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-231261484-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261484
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261484
    reference: chr 2
allele count: 1
allele frequency: 8.305233958440609e-6
allele num: 120406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1168T>C
  hgvsp: ENSP00000395195.1:p.Ser390Pro
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1063T>C
  hgvsp: ENSP00000379811.4:p.Ser355Pro
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.297T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.647T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1168T>C
  hgvsp: ENSP00000397911.2:p.Ser390Pro
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1168T>C
  hgvsp: ENSP00000243810.6:p.Ser390Pro
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11796
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser390Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-231261491-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261491
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261491
    reference: chr 2
allele count: 2
allele frequency: 1.660164356271271e-5
allele num: 120470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1070A>C
  hgvsp: ENSP00000379811.4:p.Asn357Thr
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1175A>C
  hgvsp: ENSP00000395195.1:p.Asn392Thr
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1175A>C
  hgvsp: ENSP00000243810.6:p.Asn392Thr
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1175A>C
  hgvsp: ENSP00000397911.2:p.Asn392Thr
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.654A>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.304A>C
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14868
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn392Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

2-231261494-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261494
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261494
    reference: chr 2
allele count: 2
allele frequency: 1.66013679527193e-5
allele num: 120472
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.307A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1073A>G
  hgvsp: ENSP00000379811.4:p.Asn358Ser
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1178A>G
  hgvsp: ENSP00000397911.2:p.Asn393Ser
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.657A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1178A>G
  hgvsp: ENSP00000395195.1:p.Asn393Ser
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1178A>G
  hgvsp: ENSP00000243810.6:p.Asn393Ser
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11797
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn393Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-231261499-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261499
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261499
    reference: chr 2
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.312T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1183T>A
  hgvsp: ENSP00000395195.1:p.Ser395Thr
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1183T>A
  hgvsp: ENSP00000397911.2:p.Ser395Thr
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.662T>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1183T>A
  hgvsp: ENSP00000243810.6:p.Ser395Thr
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1078T>A
  hgvsp: ENSP00000379811.4:p.Ser360Thr
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11799
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser395Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

2-231261503-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261503
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261503
    reference: chr 2
allele count: 1
allele frequency: 8.299306178003518e-6
allele num: 120492
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1082T>C
  hgvsp: ENSP00000379811.4:p.Val361Ala
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.316T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1187T>C
  hgvsp: ENSP00000397911.2:p.Val396Ala
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.666T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1187T>C
  hgvsp: ENSP00000395195.1:p.Val396Ala
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1187T>C
  hgvsp: ENSP00000243810.6:p.Val396Ala
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4691
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val396Ala
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

2-231261513-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261513
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261513
    reference: chr 2
allele count: 27
allele frequency: 2.240924256760122e-4
allele num: 120486
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1092T>C
  hgvsp: ENST00000396563.4:c.1092T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.326T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.676T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1197T>C
  hgvsp: ENST00000415673.2:c.1197T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1197T>C
  hgvsp: ENST00000243810.6:c.1197T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1197T>C
  hgvsp: ENST00000444636.1:c.1197T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14955
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1197T>C
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: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-231261518-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261518
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261518
    reference: chr 2
allele count: 2
allele frequency: 1.659999004000598e-5
allele num: 120482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.326+5G>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1092+5G>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.676+5G>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1197+5G>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1197+5G>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1197+5G>C
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8207
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1197+5G>C
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-231261523-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261523
    reference: chr 2
allele count: 5
allele frequency: 4.150410890678177e-5
allele num: 120470
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1197+10A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.326+10A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1197+10A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.676+10A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1092+10A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1197+10A>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-231261535-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261535
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261535
    reference: chr 2
allele count: 2
allele frequency: 1.66096402351925e-5
allele num: 120412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.326+22C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1092+22C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.676+22C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1197+22C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1197+22C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1197+22C>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11805
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3759
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

2-231261536-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261536
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261536
    reference: chr 2
allele count: 1
allele frequency: 8.304544246611745e-6
allele num: 120416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.676+23A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1092+23A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1197+23A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.326+23A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1197+23A>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1197+23A>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11804
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-231261538-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261538
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261538
    reference: chr 2
allele count: 1
allele frequency: 8.306061763875276e-6
allele num: 120394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1197+25C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.326+25C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1197+25C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1197+25C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1092+25C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.676+25C>A
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-231261538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261538
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261538
    reference: chr 2
allele count: 5
allele frequency: 4.153030881937638e-5
allele num: 120394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1197+25C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1092+25C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.676+25C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.326+25C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1197+25C>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1197+25C>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22995
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11809
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-231261542-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261542
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261542
    reference: chr 2
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1092+29C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1197+29C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.676+29C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.326+29C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1197+29C>G
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1197+29C>G
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-231261547-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261547
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261547
    reference: chr 2
allele count: 2
allele frequency: 1.661322745169704e-5
allele num: 120386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1197+34T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.326+34T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1197+34T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1092+34T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1197+34T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.676+34T>C
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-231261548-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261548
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261548
    reference: chr 2
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1197+35A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1197+35A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1197+35A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.326+35A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1092+35A>T
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.676+35A>T
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8194
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14778
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/2-231261554-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261554
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261554
    reference: chr 2
allele count: 1
allele frequency: 8.313519445321983e-6
allele num: 120286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1197+41C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.326+41C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1092+41C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1197+41C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.676+41C>A
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1197+41C>A
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-231261556-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261556
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261556
    reference: chr 2
allele count: 1
allele frequency: 8.311999202048076e-6
allele num: 120308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1197+43T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.676+43T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1092+43T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1197+43T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1197+43T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.326+43T>C
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20254
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

2-231261558-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 231261558
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 231261558
    reference: chr 2
allele count: 434
allele frequency: 3.608007448789572e-3
allele num: 120288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000395195
  ensembl transcript: ENST00000444636
  gene symbol: SP140L
  hgvsc: ENST00000444636.1:c.1197+45T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000483728
  gene symbol: SP140L
  hgvsc: ENST00000483728.1:n.676+45T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000379811
  ensembl transcript: ENST00000396563
  gene symbol: SP140L
  hgvsc: ENST00000396563.4:c.1092+45T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000243810
  ensembl transcript: ENST00000243810
  gene symbol: SP140L
  hgvsc: ENST00000243810.6:c.1197+45T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl transcript: ENST00000496870
  gene symbol: SP140L
  hgvsc: ENST00000496870.1:n.326+45T>C
  variant of: http://identifiers.org/hgnc/25105
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185404
  ensembl protein: ENSP00000397911
  ensembl transcript: ENST00000415673
  gene symbol: SP140L
  hgvsc: ENST00000415673.2:c.1197+45T>C
  variant of: http://identifiers.org/hgnc/25105
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 2.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 3.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21348
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 4.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 3.75e1
  variant carriers: 61
num of homozygotes: 3
reference allele: T

GenotypeQuality
all individuals: 1636
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3190
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 7.904657667517937e-4
allele num: 16446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.086800839609829e-5
allele num: 64792
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.192179303767287e-4
allele num: 8388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.993e0

DP
type: SiteQuality
SIO_000300: 3.512719e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 5.89e1

FS
type: SiteQuality
SIO_000300: 7.547499999999999e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.37e0

QD
type: SiteQuality
SIO_000300: 5.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

GenotypeQuality
all individuals: 1661
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1526
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14317
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5833
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.087372645878358e-5
allele num: 64780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

MQ
type: SiteQuality
SIO_000300: 5.634e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 1.229e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

QD
type: SiteQuality
SIO_000300: 1.17e1

VQSLOD
type: SiteQuality
SIO_000300: -9.550999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.512046e6

GenotypeQuality
all individuals: 1556
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5902
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14447
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27499
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.127e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 4.091e0

DP
type: SiteQuality
SIO_000300: 3.454104e6

VQSLOD
type: SiteQuality
SIO_000300: -1.291e0

MQ
type: SiteQuality
SIO_000300: 5.722e1

QD
type: SiteQuality
SIO_000300: 1.083e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.09e-2

GenotypeQuality
all individuals: 895
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 835
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12077
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14424
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2981
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7282
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4538
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.00341159943809e-4
allele num: 9966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.182e2

DP
type: SiteQuality
SIO_000300: 3.440307e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e0

MQ
type: SiteQuality
SIO_000300: 5.752e1

MQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.059e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

FS
type: SiteQuality
SIO_000300: 3.33044e2

QD
type: SiteQuality
SIO_000300: 8.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e0

GenotypeQuality
all individuals: 2565
bin: 7.25e1
variant carriers: 51

GenotypeQuality
all individuals: 835
bin: 1.25e1
variant carriers: 75

GenotypeQuality
all individuals: 1081
bin: 3.25e1
variant carriers: 61

GenotypeQuality
all individuals: 1391
bin: 5.25e1
variant carriers: 62

GenotypeQuality
all individuals: 5736
bin: 6.75e1
variant carriers: 49

GenotypeQuality
all individuals: 12077
bin: 9.75e1
variant carriers: 817

GenotypeQuality
all individuals: 1278
bin: 4.75e1
variant carriers: 70

GenotypeQuality
all individuals: 2289
bin: 8.25e1
variant carriers: 43

East Asian
type: Population
allele count: 141
allele frequency: 1.936281241417193e-2
allele num: 7282
num of homozygotes: 0

South Asian
type: Population
allele count: 97
allele frequency: 6.156384869256157e-3
allele num: 15756
num of homozygotes: 0

Other
type: Population
allele count: 20
allele frequency: 2.564102564102564e-2
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 847
allele frequency: 1.440378205564247e-2
allele num: 58804
num of homozygotes: 0

African
type: Population
allele count: 122
allele frequency: 1.447899359126513e-2
allele num: 8426
num of homozygotes: 0

Latino
type: Population
allele count: 58
allele frequency: 5.819787276740919e-3
allele num: 9966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 433
allele frequency: 9.541648303217276e-2
allele num: 4538
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.33044e2

MQ
type: SiteQuality
SIO_000300: 5.752e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e0

DP
type: SiteQuality
SIO_000300: 3.440307e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

QD
type: SiteQuality
SIO_000300: 8.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.182e2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.059e0

MQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 15

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 23

GenotypeQuality
all individuals: 3380
bin: 7.25e1
variant carriers: 15

GenotypeQuality
all individuals: 7826
bin: 6.75e1
variant carriers: 15

GenotypeQuality
all individuals: 166
bin: 5.25e1
variant carriers: 24

GenotypeQuality
all individuals: 2405
bin: 9.25e1
variant carriers: 19

GenotypeQuality
all individuals: 18811
bin: 6.25e1
variant carriers: 17

GenotypeQuality
all individuals: 17132
bin: 9.75e1
variant carriers: 371

African
type: Population
allele count: 52
allele frequency: 5.343197698314837e-3
allele num: 9732
num of homozygotes: 0

Latino
type: Population
allele count: 25
allele frequency: 2.182262569832402e-3
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.065752759917505e-4
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 322
allele frequency: 4.845894534071755e-3
allele num: 66448
num of homozygotes: 0

East Asian
type: Population
allele count: 52
allele frequency: 6.067677946324387e-3
allele num: 8570
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 1.247165532879819e-2
allele num: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 178
allele frequency: 2.854393842206543e-2
allele num: 6236
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.042e2

FS
type: SiteQuality
SIO_000300: 2.06235e2

DP
type: SiteQuality
SIO_000300: 3.164813e6

QD
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.139e0

MQ
type: SiteQuality
SIO_000300: 5.793e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.631e0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19120
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17644
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7992
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3325
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3423
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

DP
type: SiteQuality
SIO_000300: 3.138298e6

MQ
type: SiteQuality
SIO_000300: 5.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.806e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.112e2

FS
type: SiteQuality
SIO_000300: 2.56664e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.649e0

QD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

GenotypeQuality
all individuals: 17464
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3427
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2443
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.545595054095827e-4
allele num: 6470
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.137924e6

FS
type: SiteQuality
SIO_000300: 1.42128e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.218e0

VQSLOD
type: SiteQuality
SIO_000300: -9.713e1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

MQ
type: SiteQuality
SIO_000300: 5.799e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

QD
type: SiteQuality
SIO_000300: 5.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.446e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19137
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999040307101727e-5
allele num: 66688
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
type: SiteQuality
SIO_000300: 1.167e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

MQ
type: SiteQuality
SIO_000300: 5.824e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

DP
type: SiteQuality
SIO_000300: 3.135028e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

GenotypeQuality
all individuals: 91
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19137
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17607
bin: 9.75e1
variant carriers: 3

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498560460652591e-5
allele num: 66688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

DP
type: SiteQuality
SIO_000300: 3.135028e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.824e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.15e-1

QD
type: SiteQuality
SIO_000300: 1.167e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

GenotypeQuality
all individuals: 17604
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2446
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7977
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4232
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73973556019485e-4
allele num: 11496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.235000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.285e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.234e0

DP
type: SiteQuality
SIO_000300: 3.134688e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.649e0

MQ
type: SiteQuality
SIO_000300: 5.836e1

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3419
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7975
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17591
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.107252298263534e-4
allele num: 9790
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199544173214179e-4
allele num: 66692
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 3.134968e6

VQSLOD
type: SiteQuality
SIO_000300: -1.133e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.281e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

QD
type: SiteQuality
SIO_000300: 7.67e0

FS
type: SiteQuality
SIO_000300: 3.531e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

MQ
type: SiteQuality
SIO_000300: 5.687e1

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7968
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4218
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 9.25e1
variant carriers: 1

South Asian
type: Population
allele count: 20
allele frequency: 1.211387038158692e-3
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 209
allele frequency: 2.13265306122449e-2
allele num: 9800
num of homozygotes: 3

Latino
type: Population
allele count: 7
allele frequency: 6.088015307009915e-4
allele num: 11498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999310158663508e-5
allele num: 66682
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.26e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

QD
type: SiteQuality
SIO_000300: 1.459e1

FS
type: SiteQuality
SIO_000300: 3.293e0

MQ
type: SiteQuality
SIO_000300: 5.86e1

DP
type: SiteQuality
SIO_000300: 3.136118e6

VQSLOD
type: SiteQuality
SIO_000300: 1.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

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

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19248
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2447
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.175e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.581e1

VQSLOD
type: SiteQuality
SIO_000300: -1.222e0

DP
type: SiteQuality
SIO_000300: 3.130086e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7885
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4188
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2421
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.845749917952085e-4
allele num: 6094
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.728e1

MQRankSum
type: SiteQuality
SIO_000300: -1.017e0

VQSLOD
type: SiteQuality
SIO_000300: -3.943e2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.117e0

DP
type: SiteQuality
SIO_000300: 3.131251e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.93731e2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.196e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
all individuals: 17408
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3289
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.803e1

FS
type: SiteQuality
SIO_000300: 1.0378e1

MQRankSum
type: SiteQuality
SIO_000300: -6.125e0

QD
type: SiteQuality
SIO_000300: 6.8e0

DP
type: SiteQuality
SIO_000300: 3.119166e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.262e0

VQSLOD
type: SiteQuality
SIO_000300: -2.138e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
all individuals: 4176
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7836
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

QD
type: SiteQuality
SIO_000300: 1.669e1

FS
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 3.116972e6

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 123
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3278
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

DP
type: SiteQuality
SIO_000300: 3.115815e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.377e1

FS
type: SiteQuality
SIO_000300: 8.361000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.554e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4176
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17404
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7833
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.02082482645978e-4
allele num: 9796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.361000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.554e1

DP
type: SiteQuality
SIO_000300: 3.115815e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

QD
type: SiteQuality
SIO_000300: 1.377e1

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

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000840235265874e-5
allele num: 66648
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

QD
type: SiteQuality
SIO_000300: 1.205e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQ
type: SiteQuality
SIO_000300: 5.679e1

VQSLOD
type: SiteQuality
SIO_000300: -9.748e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

DP
type: SiteQuality
SIO_000300: 3.113476e6

GenotypeQuality
all individuals: 3026
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2488
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3219
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.02535245356084e-5
allele num: 66108
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16072
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: -1.328e0

QD
type: SiteQuality
SIO_000300: 1.547e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 3.057049e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e0

MQ
type: SiteQuality
SIO_000300: 5.492e1

GenotypeQuality
all individuals: 1159
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2151
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17381
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4000
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65970
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.232859636000998e-5
allele num: 16044
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 3.054814e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.157e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.729e0

QD
type: SiteQuality
SIO_000300: 6.21e0

MQ
type: SiteQuality
SIO_000300: 5.768e1

GenotypeQuality
all individuals: 418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3650
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.25e1
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GenotypeQuality
all individuals: 8486
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2939
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3506
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.910802775024777e-5
allele num: 10090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.687478906513669e-4
allele num: 5926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.02431029773286e-4
allele num: 29288
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 1.257e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.267678e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

GenotypeQuality
all individuals: 689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8482
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.409245874812491e-5
allele num: 29332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3602
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5936
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

QD
type: SiteQuality
SIO_000300: 8.94e0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.89e-1

DP
type: SiteQuality
SIO_000300: 1.272156e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

GenotypeQuality
all individuals: 443
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4585
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5880
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.273322422258593e-5
allele num: 30550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3702
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.464e0

VQSLOD
type: SiteQuality
SIO_000300: 8.88e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 1.312849e6

GenotypeQuality
all individuals: 415
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4445
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.255420274757471e-5
allele num: 30718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.439e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

QD
type: SiteQuality
SIO_000300: 6.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

DP
type: SiteQuality
SIO_000300: 1.319911e6

GenotypeQuality
all individuals: 3123
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8338
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8485
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4772
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

FS
type: SiteQuality
SIO_000300: 5.055e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

DP
type: SiteQuality
SIO_000300: 1.352168e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.021e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
all individuals: 1245
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25115
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4810
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.114294612270321e-5
allele num: 32110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10420
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -7.347e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.358686e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

QD
type: SiteQuality
SIO_000300: 7.17e0

GenotypeQuality
all individuals: 2990
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11082
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8488
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 384
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25204
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.894488653109343e-5
allele num: 33930
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.402458e6

VQSLOD
type: SiteQuality
SIO_000300: -2.426e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

QD
type: SiteQuality
SIO_000300: 5.05e0

MQ
type: SiteQuality
SIO_000300: 5.811e1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

FS
type: SiteQuality
SIO_000300: 8.5e-1

GenotypeQuality
all individuals: 689
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25236
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2925
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2933
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10730
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.921584667523665e-5
allele num: 34228
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.147e-1

QD
type: SiteQuality
SIO_000300: 1.064e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

DP
type: SiteQuality
SIO_000300: 1.406376e6

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.134e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

GenotypeQuality
all individuals: 1182
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2864
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8488
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 549
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6702
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4084
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.276437847866419e-5
allele num: 10780
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.59e-1

QD
type: SiteQuality
SIO_000300: 1.5e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.18e-1

FS
type: SiteQuality
SIO_000300: 1.678e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.954e0

DP
type: SiteQuality
SIO_000300: 1.414425e6

GenotypeQuality
all individuals: 2730
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8492
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4196
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.779630865021125e-5
allele num: 35976
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.404e0

FS
type: SiteQuality
SIO_000300: 2.207e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

DP
type: SiteQuality
SIO_000300: 1.431282e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

QD
type: SiteQuality
SIO_000300: 3.66e0

GenotypeQuality
all individuals: 1208
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23786
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.177060619276058e-5
allele num: 36688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.359603586597452e-4
allele num: 4238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11032
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5434
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.589e0

DP
type: SiteQuality
SIO_000300: 1.438304e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

GenotypeQuality
all individuals: 9851
bin: 2.25e1
variant carriers: 841

GenotypeQuality
all individuals: 6323
bin: 6.25e1
variant carriers: 770

GenotypeQuality
all individuals: 1123
bin: 6.75e1
variant carriers: 591

GenotypeQuality
all individuals: 1617
bin: 3.25e1
variant carriers: 1155

GenotypeQuality
all individuals: 1357
bin: 3.75e1
variant carriers: 1159

GenotypeQuality
all individuals: 1142
bin: 4.75e1
variant carriers: 988

GenotypeQuality
all individuals: 803
bin: 8.25e1
variant carriers: 610

GenotypeQuality
all individuals: 815
bin: 9.25e1
variant carriers: 655

European (Non-Finnish)
type: Population
allele count: 24532
allele frequency: 4.927291716879569e-1
allele num: 49788
num of homozygotes: 5169

African
type: Population
allele count: 3870
allele frequency: 4.770710059171598e-1
allele num: 8112
num of homozygotes: 868

Latino
type: Population
allele count: 2688
allele frequency: 3.789117564138709e-1
allele num: 7094
num of homozygotes: 361

South Asian
type: Population
allele count: 6548
allele frequency: 4.984774665042631e-1
allele num: 13136
num of homozygotes: 1526

Other
type: Population
allele count: 299
allele frequency: 4.295977011494253e-1
allele num: 696
num of homozygotes: 56

European (Finnish)
type: Population
allele count: 2260
allele frequency: 4.256120527306968e-1
allele num: 5310
num of homozygotes: 400

East Asian
type: Population
allele count: 1716
allele frequency: 2.748238308776426e-1
allele num: 6244
num of homozygotes: 189

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.365e0

QD
type: SiteQuality
SIO_000300: 1.767e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.676277e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.48e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-2

GenotypeQuality
all individuals: 529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29761
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1140
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5252
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.734332276058187e-5
allele num: 36572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11062
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.699e0

QD
type: SiteQuality
SIO_000300: 7.78e0

FS
type: SiteQuality
SIO_000300: 3.892e0

DP
type: SiteQuality
SIO_000300: 1.165081e6

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

MQ
type: SiteQuality
SIO_000300: 5.881e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.043e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
all individuals: 27523
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2538
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4240
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6066
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3846
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 2.254283137962128e-4
allele num: 4436
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.55e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.739e1

DP
type: SiteQuality
SIO_000300: 1.039968e6

VQSLOD
type: SiteQuality
SIO_000300: -1.596e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 2684
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variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.382263410674423e-5
allele num: 29566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4256
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.837e0

DP
type: SiteQuality
SIO_000300: 1.018752e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.036e0

QD
type: SiteQuality
SIO_000300: 1.604e1

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

GenotypeQuality
all individuals: 2834
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4239
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 4146
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
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variant carriers: 0

GenotypeQuality
all individuals: 415
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variant carriers: 0

GenotypeQuality
all individuals: 2704
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.422983731394946e-4
allele num: 28890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5782
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.145922746781116e-3
allele num: 466
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.87e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.76e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

FS
type: SiteQuality
SIO_000300: 6.820000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

DP
type: SiteQuality
SIO_000300: 1.009382e6

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.25e1
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GenotypeQuality
all individuals: 678
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variant carriers: 0

GenotypeQuality
all individuals: 302
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variant carriers: 0

GenotypeQuality
all individuals: 119
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GenotypeQuality
all individuals: 414
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.167944950182782e-5
allele num: 27902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4014
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

QD
type: SiteQuality
SIO_000300: 7.96e0

FS
type: SiteQuality
SIO_000300: 2.504e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.27e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 9.92148e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3688
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4232
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
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variant carriers: 0

GenotypeQuality
all individuals: 302
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variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3942
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27608
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.08e-2

DP
type: SiteQuality
SIO_000300: 9.89007e5

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.363e0

FS
type: SiteQuality
SIO_000300: 4.26e0

GenotypeQuality
all individuals: 777
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 499
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GenotypeQuality
all individuals: 487
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variant carriers: 0

GenotypeQuality
all individuals: 412
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variant carriers: 0

GenotypeQuality
all individuals: 1495
bin: 3.75e1
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GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.72649e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.236e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 3.404e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 535
bin: 7.75e1
variant carriers: 237

GenotypeQuality
all individuals: 558
bin: 5.25e1
variant carriers: 436

GenotypeQuality
all individuals: 14264
bin: 9.75e1
variant carriers: 12316

GenotypeQuality
all individuals: 707
bin: 4.75e1
variant carriers: 389

GenotypeQuality
all individuals: 599
bin: 8.25e1
variant carriers: 404

GenotypeQuality
all individuals: 391
bin: 7.25e1
variant carriers: 159

GenotypeQuality
all individuals: 1313
bin: 9.25e1
variant carriers: 1152

South Asian
type: Population
allele count: 2442
allele frequency: 2.545871559633027e-1
allele num: 9592
num of homozygotes: 314

East Asian
type: Population
allele count: 322
allele frequency: 9.168564920273349e-2
allele num: 3512
num of homozygotes: 9

African
type: Population
allele count: 1355
allele frequency: 2.613811728395062e-1
allele num: 5184
num of homozygotes: 183

European (Non-Finnish)
type: Population
allele count: 8948
allele frequency: 3.527000394166338e-1
allele num: 25370
num of homozygotes: 1425

Latino
type: Population
allele count: 560
allele frequency: 2.325581395348837e-1
allele num: 2408
num of homozygotes: 42

Other
type: Population
allele count: 157
allele frequency: 3.600917431192661e-1
allele num: 436
num of homozygotes: 19

European (Finnish)
type: Population
allele count: 1309
allele frequency: 3.916816277678037e-1
allele num: 3342
num of homozygotes: 236

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

FS
type: SiteQuality
SIO_000300: 7.73e-1

DP
type: SiteQuality
SIO_000300: 9.68537e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-2

QD
type: SiteQuality
SIO_000300: 1.912e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 328
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 317
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GenotypeQuality
all individuals: 753
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variant carriers: 0

GenotypeQuality
all individuals: 227
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3304
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.078515962036238e-4
allele num: 9272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3060
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.627e0

VQSLOD
type: SiteQuality
SIO_000300: -5.604e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.579e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-2

DP
type: SiteQuality
SIO_000300: 9.20159e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.75e1
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GenotypeQuality
all individuals: 4224
bin: 7.75e1
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GenotypeQuality
all individuals: 14412
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6318
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variant carriers: 0

GenotypeQuality
all individuals: 2996
bin: 7.25e1
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GenotypeQuality
all individuals: 3090
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.038205980066445e-4
allele num: 9632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65410
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177578897786152e-4
allele num: 8492
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.954525e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.099e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.94e1

MQ
type: SiteQuality
SIO_000300: 5.097e1

GenotypeQuality
all individuals: 542
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6459
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4306
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16253
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11744
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 797
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.237623762376238e-4
allele num: 16160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9646
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.973253e6

QD
type: SiteQuality
SIO_000300: 8.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.408e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.048e0

MQ
type: SiteQuality
SIO_000300: 5.097e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

GenotypeQuality
all individuals: 569
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3124
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.050175385084642e-5
allele num: 65570
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.174364040503828e-5
allele num: 16196
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

MQ
type: SiteQuality
SIO_000300: 4.882e1

QD
type: SiteQuality
SIO_000300: 1.456e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

FS
type: SiteQuality
SIO_000300: 6.596e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

DP
type: SiteQuality
SIO_000300: 1.996626e6

VQSLOD
type: SiteQuality
SIO_000300: -1.552e0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3645
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11769
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 488
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522904483430799e-5
allele num: 65664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.357e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 2.017024e6

VQSLOD
type: SiteQuality
SIO_000300: -2.072e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

GenotypeQuality
all individuals: 231
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11771
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.248e1

MQ
type: SiteQuality
SIO_000300: 4.652e1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: -2.309e0

FS
type: SiteQuality
SIO_000300: 1.382e0

DP
type: SiteQuality
SIO_000300: 2.033376e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

GenotypeQuality
all individuals: 890
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519387383007172e-5
allele num: 65816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 4.652e1

VQSLOD
type: SiteQuality
SIO_000300: -2.309e0

FS
type: SiteQuality
SIO_000300: 1.382e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.248e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e0

DP
type: SiteQuality
SIO_000300: 2.033376e6

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4588
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11780
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 526
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.043e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

FS
type: SiteQuality
SIO_000300: 1.801e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

DP
type: SiteQuality
SIO_000300: 2.042892e6

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

QD
type: SiteQuality
SIO_000300: 1.388e1

GenotypeQuality
all individuals: 7098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516024377671993e-5
allele num: 65962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.043e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

QD
type: SiteQuality
SIO_000300: 1.388e1

FS
type: SiteQuality
SIO_000300: 1.801e0

DP
type: SiteQuality
SIO_000300: 2.042892e6

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 7130
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2182
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3725
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11781
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515197430225158e-5
allele num: 65998
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.047419e6

MQ
type: SiteQuality
SIO_000300: 4.74e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.264e0

VQSLOD
type: SiteQuality
SIO_000300: -1.734e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.95e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24816
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.056343820686819e-4
allele num: 9726
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.668e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.51e-1

FS
type: SiteQuality
SIO_000300: 9.042e0

MQ
type: SiteQuality
SIO_000300: 5.479e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

DP
type: SiteQuality
SIO_000300: 2.067337e6

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4684
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variant carriers: 0

GenotypeQuality
all individuals: 2194
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variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11799
bin: 9.75e1
variant carriers: 13

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.655579302248578e-4
allele num: 66442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.551e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

MQ
type: SiteQuality
SIO_000300: 4.929e1

QD
type: SiteQuality
SIO_000300: 1.255e1

DP
type: SiteQuality
SIO_000300: 2.070689e6

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.916e0

GenotypeQuality
all individuals: 4689
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7415
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11795
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -4.244e-1

FS
type: SiteQuality
SIO_000300: 2.713e0

QD
type: SiteQuality
SIO_000300: 1.36e1

MQ
type: SiteQuality
SIO_000300: 5.653e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.072561e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.961e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7430
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4691
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

VQSLOD
type: SiteQuality
SIO_000300: -2.382e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.86e-1

MQ
type: SiteQuality
SIO_000300: 5.018e1

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

DP
type: SiteQuality
SIO_000300: 2.073111e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 8.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 3764
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004266057802079e-5
allele num: 66572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

DP
type: SiteQuality
SIO_000300: 2.074129e6

MQRankSum
type: SiteQuality
SIO_000300: 2.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

FS
type: SiteQuality
SIO_000300: 2.22e0

MQ
type: SiteQuality
SIO_000300: 5.128e1

VQSLOD
type: SiteQuality
SIO_000300: -2.175e0

QD
type: SiteQuality
SIO_000300: 1.154e1

GenotypeQuality
all individuals: 7433
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1675
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.033060357901122e-4
allele num: 6594
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.146e0

FS
type: SiteQuality
SIO_000300: 2.698e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.085e1

QD
type: SiteQuality
SIO_000300: 1.291e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 2.074357e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3355
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7435
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25202
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.263e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.249e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.033e1

DP
type: SiteQuality
SIO_000300: 2.074611e6

MQ
type: SiteQuality
SIO_000300: 5.281e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7432
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variant carriers: 0

GenotypeQuality
all individuals: 25190
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11800
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 164
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.205e1

FS
type: SiteQuality
SIO_000300: 2.0466e1

DP
type: SiteQuality
SIO_000300: 2.074714e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e0

VQSLOD
type: SiteQuality
SIO_000300: -3.307e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

QD
type: SiteQuality
SIO_000300: 1.125e1

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 11818
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2193
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25138
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 23
allele frequency: 2.358974358974359e-3
allele num: 9750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.465003465003465e-4
allele num: 11544
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.433e1

DP
type: SiteQuality
SIO_000300: 2.075957e6

QD
type: SiteQuality
SIO_000300: 1.223e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2194
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11805
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7425
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4693
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003814844852963e-5
allele num: 66582
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.524e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.075052e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.084e1

FS
type: SiteQuality
SIO_000300: 6.952e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: -1.913e0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7431
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11804
bin: 9.75e1
variant carriers: 4

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.797773654916512e-4
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 7.44e0

FS
type: SiteQuality
SIO_000300: 3.397e0

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

MQ
type: SiteQuality
SIO_000300: 5.589e1

DP
type: SiteQuality
SIO_000300: 2.074782e6

VQSLOD
type: SiteQuality
SIO_000300: -1.187e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.752e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

GenotypeQuality
all individuals: 1674
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 3342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4689
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4346e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.382e0

DP
type: SiteQuality
SIO_000300: 2.070685e6

MQ
type: SiteQuality
SIO_000300: 5.561e1

QD
type: SiteQuality
SIO_000300: 1.026e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.289e0

GenotypeQuality
all individuals: 280
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3344
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3759
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GenotypeQuality
all individuals: 4687
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24170
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516070345664039e-4
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.969e1

VQSLOD
type: SiteQuality
SIO_000300: -4.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 5.728e0

DP
type: SiteQuality
SIO_000300: 2.069398e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: -4.738e0

QD
type: SiteQuality
SIO_000300: 4.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e-1

GenotypeQuality
all individuals: 161
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11809
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24069
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

FS
type: SiteQuality
SIO_000300: 9.813000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.35e-1

MQ
type: SiteQuality
SIO_000300: 5.44e1

QD
type: SiteQuality
SIO_000300: 7.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.071e0

VQSLOD
type: SiteQuality
SIO_000300: -2.218e0

DP
type: SiteQuality
SIO_000300: 2.069445e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-1

GenotypeQuality
all individuals: 364
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24069
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.5135996153037e-5
allele num: 66546
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.813000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -2.218e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 7.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.071e0

DP
type: SiteQuality
SIO_000300: 2.069445e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQ
type: SiteQuality
SIO_000300: 5.44e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3756
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.025641025641026e-4
allele num: 9750
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

QD
type: SiteQuality
SIO_000300: 1.491e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQ
type: SiteQuality
SIO_000300: 5.093e1

FS
type: SiteQuality
SIO_000300: 6.17e-1

DP
type: SiteQuality
SIO_000300: 2.065615e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.721e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.515e-1

GenotypeQuality
all individuals: 3755
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7301
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11804
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 298
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.061469e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e0

QD
type: SiteQuality
SIO_000300: 1.311e1

FS
type: SiteQuality
SIO_000300: 8.743e0

VQSLOD
type: SiteQuality
SIO_000300: -1.469e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.02e-1

MQ
type: SiteQuality
SIO_000300: 5.516e1

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3756
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3328
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.581e0

VQSLOD
type: SiteQuality
SIO_000300: -1.68e0

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.143e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQ
type: SiteQuality
SIO_000300: 5.652e1

QD
type: SiteQuality
SIO_000300: 1.174e1

DP
type: SiteQuality
SIO_000300: 2.060218e6

GenotypeQuality
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11803
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7074
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3297
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.1020258725897e-5
allele num: 16388
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

MQ
type: SiteQuality
SIO_000300: 5.225e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.643e0

VQSLOD
type: SiteQuality
SIO_000300: -2.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

FS
type: SiteQuality
SIO_000300: 1.492e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.668e0

DP
type: SiteQuality
SIO_000300: 2.056483e6

QD
type: SiteQuality
SIO_000300: 1.132e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11804
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516530178950561e-4
allele num: 6594
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

FS
type: SiteQuality
SIO_000300: 1.236e0

DP
type: SiteQuality
SIO_000300: 2.055645e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.416e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.413e0

MQRankSum
type: SiteQuality
SIO_000300: -3.784e0

MQ
type: SiteQuality
SIO_000300: 5.063e1

QD
type: SiteQuality
SIO_000300: 6.26e0