1-48877241-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877241
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877241
    reference: chr 1
allele count: 3
allele frequency: 2.49804319949373e-5
allele num: 120094
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.300G>A
  hgvsp: ENST00000371847.3:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.84G>A
  hgvsp: ENST00000396199.3:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.300G>A
  hgvsp: ENST00000371843.3:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.259G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.*13G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.463G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.188G>A
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr100Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

1-48877245-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877245
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877245
    reference: chr 1
allele count: 1
allele frequency: 8.347942232239753e-6
allele num: 119790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.184C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.255C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.296C>T
  hgvsp: ENSP00000360909.3:p.Ser99Phe
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.*9C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.80C>T
  hgvsp: ENSP00000379502.3:p.Ser27Phe
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.459C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.296C>T
  hgvsp: ENSP00000360913.3:p.Ser99Phe
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser99Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-48877251-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877251
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877251
    reference: chr 1
allele count: 1
allele frequency: 8.385744234800838e-6
allele num: 119250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.74C>T
  hgvsp: ENSP00000379502.3:p.Thr25Ile
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.453C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.290C>T
  hgvsp: ENSP00000360909.3:p.Thr97Ile
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.178C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.249C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.290C>T
  hgvsp: ENSP00000360913.3:p.Thr97Ile
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8749
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr97Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

1-48877257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877257
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877257
    reference: chr 1
allele count: 2
allele frequency: 1.693193362682018e-5
allele num: 118120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.243G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.284G>A
  hgvsp: ENSP00000360913.3:p.Gly95Asp
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.172G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.258G>A
  hgvsp: ENST00000487543.1:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.447G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.284G>A
  hgvsp: ENSP00000360909.3:p.Gly95Asp
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.68G>A
  hgvsp: ENSP00000379502.3:p.Gly23Asp
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26137
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly95Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-48877258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877258
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877258
    reference: chr 1
allele count: 5
allele frequency: 4.244914592318402e-5
allele num: 117788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.67G>A
  hgvsp: ENSP00000379502.3:p.Gly23Ser
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.283G>A
  hgvsp: ENSP00000360909.3:p.Gly95Ser
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.242G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.257G>A
  hgvsp: ENSP00000474642.1:p.Gly86Glu
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.283G>A
  hgvsp: ENSP00000360913.3:p.Gly95Ser
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.171G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.446G>A
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12084
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly95Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/1-48877259-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877259
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877259
    reference: chr 1
allele count: 12
allele frequency: 1.021102791014295e-4
allele num: 117520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.66G>T
  hgvsp: ENSP00000379502.3:p.Leu22Phe
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.282G>T
  hgvsp: ENST00000371843.3:c.282G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.256G>T
  hgvsp: ENSP00000474642.1:p.Gly86Trp
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.282G>T
  hgvsp: ENST00000371847.3:c.282G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.170G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.241G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.445G>T
  variant of: http://identifiers.org/hgnc/18309
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25862
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12421
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12030
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu22Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-48877265-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877265
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877265
    reference: chr 1
allele count: 1
allele frequency: 8.641847281274845e-6
allele num: 115716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.281-5T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-5T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.250T>C
  hgvsp: ENSP00000474642.1:p.Cys84Arg
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.281-5T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.439T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.240-5T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.169-5T>C
  variant of: http://identifiers.org/hgnc/18309
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24518
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38930
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys84Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

1-48877272-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877272
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877272
    reference: chr 1
allele count: 1
allele frequency: 9.170610028979127e-6
allele num: 109044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.281-12T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.432T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.243T>C
  hgvsp: ENST00000487543.1:c.243T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-12T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.281-12T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.240-12T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.169-12T>C
  variant of: http://identifiers.org/hgnc/18309
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5807
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr81Tyr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-48877285-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877285
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877285
    reference: chr 1
allele count: 5
allele frequency: 5.420289226633133e-5
allele num: 92246
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.281-25G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.281-25G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-9G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.240-25G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.169-25G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-25G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.428-9G>T
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21213
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10157
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-48877288-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877288
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877288
    reference: chr 1
allele count: 1
allele frequency: 1.153269519086611e-5
allele num: 86710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-28T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.428-12T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.281-28T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.169-28T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.281-28T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-12T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.240-28T>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23139
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3620
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

1-48877290-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877290
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877290
    reference: chr 1
allele count: 1
allele frequency: 1.245640259093174e-5
allele num: 80280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.428-14A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.169-30A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.281-30A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.281-30A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-14A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-30A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.240-30A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5992
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30963
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

1-48877291-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877291
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877291
    reference: chr 1
allele count: 1
allele frequency: 1.244183442406749e-5
allele num: 80374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.281-31T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.240-31T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.281-31T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-15T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.169-31T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-31T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.428-15T>C
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6008
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

1-48877296-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877296
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877296
    reference: chr 1
allele count: 1
allele frequency: 1.357036232867417e-5
allele num: 73690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-20T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.281-36T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.281-36T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.428-20T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-36T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.240-36T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.169-36T>C
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
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: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-48877304-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877304
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877304
    reference: chr 1
allele count: 3
allele frequency: 4.654049022649705e-5
allele num: 64460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.428-28G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.240-44G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.169-44G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.281-44G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-28G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-44G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.281-44G>T
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17313
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22508
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4699
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10390
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

1-48877307-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877307
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877307
    reference: chr 1
allele count: 1
allele frequency: 1.642899388841427e-5
allele num: 60868
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-47A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.281-47A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.428-31A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.281-47A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.240-47A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.169-47A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-31A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4283
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

1-48877308-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877308
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877308
    reference: chr 1
allele count: 4
allele frequency: 6.682258603407952e-5
allele num: 59860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-32A>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-48A>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.281-48A>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.240-48A>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.428-32A>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.281-48A>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.169-48A>T
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20759
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-48877311-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877311
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877311
    reference: chr 1
allele count: 1
allele frequency: 1.756358016017985e-5
allele num: 56936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-35C>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.240-51C>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.281-51C>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.281-51C>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.428-35C>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-51C>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.169-51C>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19553
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

1-48877315-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877315
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 51080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.428-39G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.169-55G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-39G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-55G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.281-55G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.240-55G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.281-55G>C
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21896
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11986
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

1-48877320-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48877320
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48877320
    reference: chr 1
allele count: 5
allele frequency: 1.036656161884226e-4
allele num: 48232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-60A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.169-60A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.281-60A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-44A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.281-60A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.240-60A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.428-44A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15669
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23262
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16004
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6906
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4062
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

1-48878746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878746
    reference: chr 1
allele count: 1
allele frequency: 7.073136228603763e-5
allele num: 14138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1486T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.168+36T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.280+36T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.280+36T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1470T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.239+36T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.427+36T>C
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27320
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

1-48878752-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878752
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878751
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 14702
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.280+29delT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.427+29delT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.239+29delT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.280+29delT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1477delT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.168+29delT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1493delT
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18042
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: TA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-48878763-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878763
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878763
    reference: chr 1
allele count: 1
allele frequency: 5.598477214197738e-5
allele num: 17862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.280+19A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.168+19A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.280+19A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.427+19A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1487A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.239+19A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1503A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27449
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20448
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/1-48878765-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878765
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878765
    reference: chr 1
allele count: 1
allele frequency: 5.318583129454313e-5
allele num: 18802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1489T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1505T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.239+17T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.280+17T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.168+17T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.280+17T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.427+17T>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19614
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

1-48878766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878766
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878766
    reference: chr 1
allele count: 1
allele frequency: 5.17651930841702e-5
allele num: 19318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.168+16G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.239+16G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.280+16G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.280+16G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.427+16G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1490G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1506G>A
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18774
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-48878771-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878771
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878771
    reference: chr 1
allele count: 1
allele frequency: 4.459507670353193e-5
allele num: 22424
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1495T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.239+11T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.427+11T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1511T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.280+11T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.280+11T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.168+11T>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6894
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

1-48878782-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878782
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878782
    reference: chr 1
allele count: 1
allele frequency: 3.10154456919546e-5
allele num: 32242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.280G>A
  hgvsp: ENSP00000360909.3:p.Val94Met
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.168G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.427G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.280G>A
  hgvsp: ENSP00000360913.3:p.Val94Met
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1506G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1522G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.239G>A
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33804
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9477
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val94Met
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/1-48878793-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878793
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878793
    reference: chr 1
allele count: 2
allele frequency: 4.855783237836263e-5
allele num: 41188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.228T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.157T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1517T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.269T>G
  hgvsp: ENSP00000360913.3:p.Leu90Arg
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.269T>G
  hgvsp: ENSP00000360909.3:p.Leu90Arg
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.416T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1533T>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7052
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32274
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu90Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

1-48878804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878804
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878804
    reference: chr 1
allele count: 90
allele frequency: 2.013783227423252e-3
allele num: 44692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1544G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.258G>A
  hgvsp: ENST00000371847.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.258G>A
  hgvsp: ENST00000371843.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1528G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.146G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.217G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.405G>A
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30954
  bin: 7.5e0
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15854
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6497
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 6.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15034
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.75e1
  variant carriers: 8
hgvs: p.Glu86Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

1-48878806-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878806
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878806
    reference: chr 1
allele count: 3
allele frequency: 6.661041786935476e-5
allele num: 45038
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.256G>A
  hgvsp: ENSP00000360913.3:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.215G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.144G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.256G>A
  hgvsp: ENSP00000360909.3:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1546G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1530G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.403G>A
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6551
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu86Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-48878833-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878833
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878833
    reference: chr 1
allele count: 3
allele frequency: 6.655721702089897e-5
allele num: 45074
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.239-10A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.386-10A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.239-10A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.127-10A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1573A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.198-10A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1557A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29304
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-48878842-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878842
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878842
    reference: chr 1
allele count: 1
allele frequency: 2.290321103018643e-5
allele num: 43662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.239-19T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.198-19T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1566T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.386-19T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.127-19T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.239-19T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1582T>C
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9969
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13507
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

1-48878843-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878843
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878843
    reference: chr 1
allele count: 8
allele frequency: 1.828989483310471e-4
allele num: 43740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.127-20A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1567A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.239-20A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.198-20A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1583A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.239-20A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.386-20A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9976
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12995
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23602
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7481
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-48878864-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878864
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878864
    reference: chr 1
allele count: 9
allele frequency: 2.400128006827031e-4
allele num: 37498
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.239-41T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.127-41T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.239-41T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.386-41T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1604T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.198-41T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1588T>C
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15777
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8197
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22486
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4576
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4819
  bin: 6.25e1
  variant carriers: 1
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: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

1-48878865-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878865
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878865
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 37420
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.239-42A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1605A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.198-42A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.239-42A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.386-42A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.127-42A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1589A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22488
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3801
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4577
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

1-48878865-TAAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878865
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878862
    reference: chr 1
allele count: 1
allele frequency: 2.672367717797969e-5
allele num: 37420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.386-45_386-43delGTT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.198-45_198-43delGTT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.127-45_127-43delGTT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.239-45_239-43delGTT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1608_65-1606delGTT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1592_239-1590delGTT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.239-45_239-43delGTT
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22488
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15798
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15836
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4577
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: TAAC
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-48878868-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48878868
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48878867
    reference: chr 1
allele count: 3
allele frequency: 8.213777242361188e-5
allele num: 36524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.386-46delT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.198-46delT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.239-46delT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.239-1593delT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.65-1609delT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.239-46delT
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.127-46delT
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15807
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: CA
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-48917174-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917174
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917174
    reference: chr 1
allele count: 1
allele frequency: 8.334305668994715e-6
allele num: 119986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.385+50A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.35+50A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.238+50A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.64+50A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.238+50A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1492A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.238+50A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6039
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

1-48917202-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917202
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917202
    reference: chr 1
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.35+22T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.238+22T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.385+22T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.64+22T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.238+22T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.238+22T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1464T>C
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11590
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6025
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

1-48917204-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917204
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917204
    reference: chr 1
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.385+20A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.238+20A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.35+20A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.64+20A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1462A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.238+20A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.238+20A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6025
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

1-48917205-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917205
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917205
    reference: chr 1
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.238+19T>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.35+19T>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.238+19T>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.238+19T>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.385+19T>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1461T>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.64+19T>A
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16520
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-48917208-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917208
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917208
    reference: chr 1
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.238+16T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.238+16T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.385+16T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.64+16T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.35+16T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.238+16T>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1458T>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20434
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-48917213-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917213
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917213
    reference: chr 1
allele count: 1
allele frequency: 8.278008642241022e-6
allele num: 120802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.35+11T>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.238+11T>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1453T>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.385+11T>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.238+11T>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.238+11T>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.64+11T>A
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6024
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

1-48917221-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917221
    reference: chr 1
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.238+3A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.238+3A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1445A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.385+3A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.238+3A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.35+3A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.64+3A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: c.238+3A>G
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-48917223-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917223
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917223
    reference: chr 1
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1443G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.238+1G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.64+1G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.238+1G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.385+1G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.238+1G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.35+1G>T
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: c.238+1G>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/1-48917245-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917245
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917245
    reference: chr 1
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.217G>T
  hgvsp: ENSP00000360909.3:p.Asp73Tyr
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.43G>T
  hgvsp: ENSP00000379502.3:p.Asp15Tyr
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.217G>T
  hgvsp: ENSP00000360913.3:p.Asp73Tyr
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.364G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1421G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.14G>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.217G>T
  hgvsp: ENSP00000474642.1:p.Asp73Tyr
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8328
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp73Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

1-48917245-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917245
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917245
    reference: chr 1
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.217G>C
  hgvsp: ENSP00000360913.3:p.Asp73His
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.217G>C
  hgvsp: ENSP00000474642.1:p.Asp73His
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.364G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.14G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.43G>C
  hgvsp: ENSP00000379502.3:p.Asp15His
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1421G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.217G>C
  hgvsp: ENSP00000360909.3:p.Asp73His
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp73His
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-48917254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917254
    reference: chr 1
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1412G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000465990
  gene symbol: SPATA6
  hgvsc: ENST00000465990.1:n.5G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.208G>A
  hgvsp: ENSP00000360913.3:p.Asp70Asn
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.208G>A
  hgvsp: ENSP00000360909.3:p.Asp70Asn
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.355G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.34G>A
  hgvsp: ENSP00000379502.3:p.Asp12Asn
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.208G>A
  hgvsp: ENSP00000474642.1:p.Asp70Asn
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp70Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

1-48917260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917260
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917260
    reference: chr 1
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.28G>A
  hgvsp: ENSP00000379502.3:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1406G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.202G>A
  hgvsp: ENSP00000474642.1:p.Ala68Thr
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.202G>A
  hgvsp: ENSP00000360913.3:p.Ala68Thr
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.349G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.202G>A
  hgvsp: ENSP00000360909.3:p.Ala68Thr
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala68Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-48917261-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917261
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917261
    reference: chr 1
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.201C>T
  hgvsp: ENST00000371847.3:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1405C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.201C>T
  hgvsp: ENST00000487543.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.27C>T
  hgvsp: ENST00000396199.3:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.201C>T
  hgvsp: ENST00000371843.3:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.348C>T
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp67Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

1-48917264-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917264
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917264
    reference: chr 1
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.24G>A
  hgvsp: ENST00000396199.3:c.24G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1402G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.198G>A
  hgvsp: ENST00000487543.1:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.198G>A
  hgvsp: ENST00000371843.3:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.345G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.198G>A
  hgvsp: ENST00000371847.3:c.198G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6020
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38364
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro66Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-48917264-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917264
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917263
    reference: chr 1
allele count: 2
allele frequency: 1.649865535958819e-5
allele num: 121222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.197delC
  hgvsp: ENSP00000360909.3:p.Pro66ArgfsTer4
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.197delC
  hgvsp: ENSP00000474642.1:p.Pro66ArgfsTer4
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.344delC
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.197delC
  hgvsp: ENSP00000360913.3:p.Pro66ArgfsTer4
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.23delC
  hgvsp: ENSP00000379502.3:p.Pro8ArgfsTer4
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1401delC
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6020
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro66ArgfsTer4
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: CG
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-48917265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917265
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917265
    reference: chr 1
allele count: 4
allele frequency: 3.299894403379092e-5
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.197C>T
  hgvsp: ENSP00000474642.1:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.197C>T
  hgvsp: ENSP00000360913.3:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.197C>T
  hgvsp: ENSP00000360909.3:p.Pro66Leu
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.344C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.23C>T
  hgvsp: ENSP00000379502.3:p.Pro8Leu
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1401C>T
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6019
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro66Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

1-48917266-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917266
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917266
    reference: chr 1
allele count: 2
allele frequency: 1.650056101907465e-5
allele num: 121208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.343C>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.22C>G
  hgvsp: ENSP00000379502.3:p.Pro8Ala
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.196C>G
  hgvsp: ENSP00000360909.3:p.Pro66Ala
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.196C>G
  hgvsp: ENSP00000360913.3:p.Pro66Ala
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.196C>G
  hgvsp: ENSP00000474642.1:p.Pro66Ala
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1400C>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6017
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro66Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-48917269-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917269
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917269
    reference: chr 1
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.193T>C
  hgvsp: ENSP00000474642.1:p.Phe65Leu
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.19T>C
  hgvsp: ENSP00000379502.3:p.Phe7Leu
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.193T>C
  hgvsp: ENSP00000360909.3:p.Phe65Leu
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.340T>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.193T>C
  hgvsp: ENSP00000360913.3:p.Phe65Leu
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1397T>C
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe65Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-48917274-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917274
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917274
    reference: chr 1
allele count: 3
allele frequency: 2.47520667975776e-5
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.190-2A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1392A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.337-2A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.190-2A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.190-2A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.16-2A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16750
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 7.25e1
  variant carriers: 0
hgvs: c.190-2A>G
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-48917276-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917276
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917276
    reference: chr 1
allele count: 2
allele frequency: 1.650246711883427e-5
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1390A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.16-4A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.190-4A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.190-4A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.337-4A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.190-4A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11765
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6015
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 9.25e1
  variant carriers: 0
hgvs: c.190-4A>G
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

1-48917284-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917284
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917284
    reference: chr 1
allele count: 5
allele frequency: 4.127523980914329e-5
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.16-12G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.190-12G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.337-12G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1382G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.190-12G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.190-12G>A
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1490
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-48917299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917299
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917299
    reference: chr 1
allele count: 13
allele frequency: 1.077336162031359e-4
allele num: 120668
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1367G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.337-27G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.16-27G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.190-27G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.190-27G>A
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.190-27G>A
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19776
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11503
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13285
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

1-48917306-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917306
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917306
    reference: chr 1
allele count: 1
allele frequency: 8.307717869901138e-6
allele num: 120370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.16-34C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.190-34C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.190-34C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.190-34C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1360C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.337-34C>T
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

1-48917311-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917311
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917311
    reference: chr 1
allele count: 1
allele frequency: 8.334305668994715e-6
allele num: 119986
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.190-39A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.190-39A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1355A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.337-39A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.16-39A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.190-39A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5998
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3883
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

1-48917313-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917313
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917313
    reference: chr 1
allele count: 3
allele frequency: 2.504884524823406e-5
allele num: 119766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.190-41A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.337-41A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.16-41A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1353A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.190-41A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.190-41A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11006
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

1-48917316-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917317
    reference: chr 1
allele count: 2
allele frequency: 1.69618020218468e-5
allele num: 117912
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1349dupA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.190-45dupA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.337-45dupA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.190-45dupA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.16-45dupA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.190-45dupA
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10927
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5981
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-48917316-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917316
    reference: chr 1
allele count: 10
allele frequency: 8.4809010109234e-5
allele num: 117912
alternate allele: T
canonical: false
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10927
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13201
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5981
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 892
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.926977325477593e-5
  allele num: 11202
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10132
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 3
  allele frequency: 3.562945368171022e-4
  allele num: 8420
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

1-48917316-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917316
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917315
    reference: chr 1
allele count: 12
allele frequency: 1.017708121310808e-4
allele num: 117912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.190-45delA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.190-45delA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.190-45delA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1349delA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.337-45delA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.16-45delA
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10927
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13201
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4902
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: AT
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

1-48917317-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917317
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917317
    reference: chr 1
allele count: 2
allele frequency: 1.702504383948789e-5
allele num: 117474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1349A>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.190-45A>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.16-45A>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.190-45A>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.190-45A>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.337-45A>C
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12873
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5489
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

1-48917318-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48917318
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48917318
    reference: chr 1
allele count: 12
allele frequency: 1.016725128361547e-4
allele num: 118026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.337-46A>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.16-46A>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.190-46A>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.190-46A>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.190-46A>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+1348A>T
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8178
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12538
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5662
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5983
  bin: 9.75e1
  variant carriers: 12
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

1-48918618-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48918618
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48918618
    reference: chr 1
allele count: 2
allele frequency: 1.695087636030783e-5
allele num: 117988
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.15+48G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+48G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.189+48G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.336+48G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.189+48G>C
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.189+48G>C
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4336
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ

1-48918624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48918624
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48918624
    reference: chr 1
allele count: 58
allele frequency: 4.912922680761672e-4
allele num: 118056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.189+42C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.15+42C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.189+42C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+42C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.336+42C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.189+42C>T
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12819
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16412
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4331
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

1-48918626-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48918626
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48918626
    reference: chr 1
allele count: 1
allele frequency: 8.451942256330504e-6
allele num: 118316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.15+40A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.336+40A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.189+40A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.189+40A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.189+40A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+40A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9352
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

1-48918627-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48918627
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48918626
    reference: chr 1
allele count: 2
allele frequency: 1.69030273321952e-5
allele num: 118322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.336+38delA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.189+38delA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+38delA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.189+38delA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.15+38delA
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.189+38delA
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9350
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: GT
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-48918641-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48918641
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48918641
    reference: chr 1
allele count: 1
allele frequency: 8.400819920024195e-6
allele num: 119036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.15+25A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.336+25A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.189+25A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.189+25A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.189+25A>G
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+25A>G
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7811
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9366
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-48918651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48918651
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 48918651
    reference: chr 1
allele count: 1
allele frequency: 8.342649291709075e-6
allele num: 119866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000463938
  gene symbol: SPATA6
  hgvsc: ENST00000463938.1:n.197+15C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000474642
  ensembl transcript: ENST00000487543
  gene symbol: SPATA6
  hgvsc: ENST00000487543.1:c.189+15C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360913
  ensembl transcript: ENST00000371847
  gene symbol: SPATA6
  hgvsc: ENST00000371847.3:c.189+15C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000379502
  ensembl transcript: ENST00000396199
  gene symbol: SPATA6
  hgvsc: ENST00000396199.3:c.15+15C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl transcript: ENST00000471975
  gene symbol: SPATA6
  hgvsc: ENST00000471975.2:n.336+15C>T
  variant of: http://identifiers.org/hgnc/18309
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000132122
  ensembl protein: ENSP00000360909
  ensembl transcript: ENST00000371843
  gene symbol: SPATA6
  hgvsc: ENST00000371843.3:c.189+15C>T
  variant of: http://identifiers.org/hgnc/18309
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14477
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4598
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1454
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1783
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
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: 3
allele frequency: 4.549866537248241e-5
allele num: 65936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 7.64e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.237e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.665842e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1739
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8879
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520588771972508e-5
allele num: 65764
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

DP
type: SiteQuality
SIO_000300: 1.658221e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.79e0

FS
type: SiteQuality
SIO_000300: 6.248e0

QD
type: SiteQuality
SIO_000300: 1.186e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.933e0

GenotypeQuality
all individuals: 523
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 233
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43690
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1386
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16064
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528210770829513e-5
allele num: 65436
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.743e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.984e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 1.645175e6

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
all individuals: 378
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4208
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.317917614354308e-5
allele num: 15828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544163063619518e-5
allele num: 64760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.619641e6

FS
type: SiteQuality
SIO_000300: 4.228e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e-1

QD
type: SiteQuality
SIO_000300: 9.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.331e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.078e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

GenotypeQuality
all individuals: 41745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8418
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15774
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.899078973153047e-4
allele num: 10206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.64e-1

FS
type: SiteQuality
SIO_000300: 3.574e0

DP
type: SiteQuality
SIO_000300: 1.613772e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.486e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

GenotypeQuality
all individuals: 436
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8377
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.862775535547966e-4
allele num: 64420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15724
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 8.272e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.607281e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.641e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7723
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63420
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.904912836767037e-5
allele num: 10096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15300
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

DP
type: SiteQuality
SIO_000300: 1.561017e6

GenotypeQuality
all individuals: 1658
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30652
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16731
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14144
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.251877816725087e-4
allele num: 7988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.567e0

MQ
type: SiteQuality
SIO_000300: 5.682e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.398378e6

MQRankSum
type: SiteQuality
SIO_000300: 8.53e-1

FS
type: SiteQuality
SIO_000300: 2.644e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

GenotypeQuality
all individuals: 303
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2564
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 618
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 9.75e1
variant carriers: 5

South Asian
type: Population
allele count: 5
allele frequency: 4.156967076820752e-4
allele num: 12028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50054
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

FS
type: SiteQuality
SIO_000300: 2.408e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.775e0

QD
type: SiteQuality
SIO_000300: 9.27e0

DP
type: SiteQuality
SIO_000300: 1.024705e6

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4197
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11786
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 300
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8966
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.765778401122019e-5
allele num: 11408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47034
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6000
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.24404e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.134e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.106e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -2.761e-1

GenotypeQuality
all individuals: 314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1077
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 323
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8551
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.300754647524388e-5
allele num: 43464
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

DP
type: SiteQuality
SIO_000300: 8.37828e5

MQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.544e0

QD
type: SiteQuality
SIO_000300: 1.062e1

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8865
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3378
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.297160709363227e-5
allele num: 43532
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.338e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

QD
type: SiteQuality
SIO_000300: 1.261e1

VQSLOD
type: SiteQuality
SIO_000300: -6.370000000000001e-2

DP
type: SiteQuality
SIO_000300: 8.36045e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.73e-1

GenotypeQuality
all individuals: 30128
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3986
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8089
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6635
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39854
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.025641025641026e-4
allele num: 9750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

FS
type: SiteQuality
SIO_000300: 1.453e0

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

MQ
type: SiteQuality
SIO_000300: 5.801e1

VQSLOD
type: SiteQuality
SIO_000300: -1.869e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 2.634e1

DP
type: SiteQuality
SIO_000300: 7.56994e5

GenotypeQuality
all individuals: 211
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2095
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4272
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 320
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7520
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 8.592049490205063e-5
allele num: 34916
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3536
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.08e-1

QD
type: SiteQuality
SIO_000300: 1.021e1

DP
type: SiteQuality
SIO_000300: 6.70713e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.02e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

GenotypeQuality
all individuals: 4850
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2267
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2297
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24813
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2972
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3124
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.242236024844721e-4
allele num: 8050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3374
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7196
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.767e-1

FS
type: SiteQuality
SIO_000300: 3.882e0

QD
type: SiteQuality
SIO_000300: 1.73e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.13e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 6.43477e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11293
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 271
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 573
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4881
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32420
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 1.329787234042553e-3
allele num: 3008
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.001e0

QD
type: SiteQuality
SIO_000300: 9.039999999999999e0

FS
type: SiteQuality
SIO_000300: 4.277e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 6.36281e5

GenotypeQuality
all individuals: 588
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3823
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2987
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4924
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.863585538576221e-4
allele num: 5366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2744
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3146
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.17715e5

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

QD
type: SiteQuality
SIO_000300: 1.789e1

VQSLOD
type: SiteQuality
SIO_000300: -2.494e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.32e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 2.905e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 183
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5079
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5623
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5038
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6620
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 6.46e0

DP
type: SiteQuality
SIO_000300: 5.92489e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: -1.08e0

GenotypeQuality
all individuals: 990
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4895
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11778
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2655
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 421
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5626
bin: 1.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.730702665282105e-4
allele num: 5778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2030
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 6.43293663557414e-4
allele num: 6218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26150
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 5.82919e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
all individuals: 11882
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.671122994652406e-4
allele num: 5984
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4662
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

FS
type: SiteQuality
SIO_000300: 3.424e0

VQSLOD
type: SiteQuality
SIO_000300: -1.647e0

MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

QD
type: SiteQuality
SIO_000300: 1.478e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.21e-2

DP
type: SiteQuality
SIO_000300: 3.30257e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 26444
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 401
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4734
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.68e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 6.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.48e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 3.66547e5

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 990
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.272264631043257e-3
allele num: 786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 4.54776e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.92e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.451e1

VQSLOD
type: SiteQuality
SIO_000300: -8.133e-1

GenotypeQuality
all individuals: 4747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18999
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 526
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.144426642252232e-4
allele num: 8738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5122
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.343e1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.66e-2

DP
type: SiteQuality
SIO_000300: 4.72226e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 18254
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5104
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1942
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1200
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 4.8319e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

MQ
type: SiteQuality
SIO_000300: 5.682e1

VQSLOD
type: SiteQuality
SIO_000300: -1.688e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

GenotypeQuality
all individuals: 15303
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 141
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5484
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.587155963302753e-4
allele num: 2180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.969e0

FS
type: SiteQuality
SIO_000300: 2.016e0

QD
type: SiteQuality
SIO_000300: 1.547e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.99e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.228e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

DP
type: SiteQuality
SIO_000300: 5.24458e5

GenotypeQuality
all individuals: 190
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 33526
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1328
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.19348445435402e-5
allele num: 16146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.33022e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.291e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.281e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 120
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 68
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.577244841048522e-4
allele num: 3586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21078
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 7.08197e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.49e-2

FS
type: SiteQuality
SIO_000300: 2.335e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

GenotypeQuality
all individuals: 368
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 719
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 31556
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 320
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 602
bin: 9.75e1
variant carriers: 75

GenotypeQuality
all individuals: 177
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 73
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 817
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 330
bin: 3.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.055966209081309e-3
allele num: 3788
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 2.037037037037037e-3
allele num: 5400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 75
allele frequency: 3.265412748171369e-3
allele num: 22968
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 7.33535e5

FS
type: SiteQuality
SIO_000300: 1.216e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

GenotypeQuality
all individuals: 31481
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 382
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15037
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 961
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.323763403666552e-5
allele num: 23128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.567928730512249e-4
allele num: 1796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.287001287001287e-4
allele num: 7770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3802
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.927e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

DP
type: SiteQuality
SIO_000300: 7.36043e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.46e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.775e0

QD
type: SiteQuality
SIO_000300: 1.143e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 534
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10001
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 5.699088145896656e-4
allele num: 5264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2630
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: -4.204e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.07e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.099e0

FS
type: SiteQuality
SIO_000300: 4.344e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

QD
type: SiteQuality
SIO_000300: 1.628e1

DP
type: SiteQuality
SIO_000300: 6.72664e5

GenotypeQuality
all individuals: 1880
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7341
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25518
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 838
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.541738577527478e-5
allele num: 22018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2458
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3572
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.197e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.56e-2

DP
type: SiteQuality
SIO_000300: 6.28502e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
all individuals: 538
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 181
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1622
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13546
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 267
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 3.238866396761133e-3
allele num: 2470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1794
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.539999999999999e0

DP
type: SiteQuality
SIO_000300: 6.28669e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

GenotypeQuality
all individuals: 493
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2526
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15845
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 581
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15791
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 80
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 184
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 4.866443170758084e-4
allele num: 18494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3172
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1662
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 5.61464e5

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.46e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

GenotypeQuality
all individuals: 183
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15836
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16126
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 257
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2086
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3164
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 5.653e0

MQ
type: SiteQuality
SIO_000300: 5.78e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.328e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.01e-2

DP
type: SiteQuality
SIO_000300: 5.61726e5

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 3801
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18458
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.234567901234568e-4
allele num: 8100
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.328e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.653e0

MQ
type: SiteQuality
SIO_000300: 5.78e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.01e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 5.61726e5

GenotypeQuality
all individuals: 4833
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15768
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4180
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15179
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.225806451612903e-3
allele num: 310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4064
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3064
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.492522432701894e-4
allele num: 8024
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.82e0

VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

DP
type: SiteQuality
SIO_000300: 5.61256e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.002e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.324e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.72e-2

GenotypeQuality
all individuals: 2364
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8112
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27197
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66118
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
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: 10056
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.451e-1

QD
type: SiteQuality
SIO_000300: 8.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.891726e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 498
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8232
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66348
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.948052e6

VQSLOD
type: SiteQuality
SIO_000300: -1.382e0

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

QD
type: SiteQuality
SIO_000300: 2.642e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
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: 10164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66368
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.950142e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 3.522e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.519e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

VQSLOD
type: SiteQuality
SIO_000300: -6.312e-1

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

GenotypeQuality
all individuals: 2587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6025
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8233
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
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: 1
allele frequency: 9.828975820719482e-5
allele num: 10174
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.951202e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.72e1

MQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.288e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

QD
type: SiteQuality
SIO_000300: 1.557e1

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37441
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6025
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2580
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8259
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.831e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 3.909e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.462e1

VQSLOD
type: SiteQuality
SIO_000300: -1.505e0

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

DP
type: SiteQuality
SIO_000300: 1.953724e6

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37712
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

FS
type: SiteQuality
SIO_000300: 1.176e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

DP
type: SiteQuality
SIO_000300: 1.957246e6

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

QD
type: SiteQuality
SIO_000300: 1.018e1

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6022
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.022e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 1.960913e6

QD
type: SiteQuality
SIO_000300: 1.21e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.332e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.26e-1

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

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

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

GenotypeQuality
all individuals: 8295
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38103
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6021
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502584445245823e-5
allele num: 66552
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.962194e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 3.225e0

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

GenotypeQuality
all individuals: 38423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1513
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2581
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

FS
type: SiteQuality
SIO_000300: 5.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.181e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.253e0

QD
type: SiteQuality
SIO_000300: 1.351e1

DP
type: SiteQuality
SIO_000300: 1.96638e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2134
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.83e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 1.96638e6

QD
type: SiteQuality
SIO_000300: 1.351e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

FS
type: SiteQuality
SIO_000300: 5.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.253e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.181e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 38399
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 8334
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.966477e6

VQSLOD
type: SiteQuality
SIO_000300: -9.812e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 2.498e0

QD
type: SiteQuality
SIO_000300: 1.14e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.399999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

GenotypeQuality
all individuals: 136
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8336
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

DP
type: SiteQuality
SIO_000300: 1.96666e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.71e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.795e0

QD
type: SiteQuality
SIO_000300: 1.128e1

GenotypeQuality
all individuals: 625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38383
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8332
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6019
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.465e0

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.121e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.386e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

DP
type: SiteQuality
SIO_000300: 1.966733e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.006e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.966805e6

FS
type: SiteQuality
SIO_000300: 5.962e0

QD
type: SiteQuality
SIO_000300: 1.311e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 624
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38364
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.966805e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 5.962e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-2

QD
type: SiteQuality
SIO_000300: 1.311e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.006e0

GenotypeQuality
all individuals: 2574
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818622696411251e-4
allele num: 16496
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.252e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.21e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 2.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.966978e6

FS
type: SiteQuality
SIO_000300: 8.82e-1

QD
type: SiteQuality
SIO_000300: 2.593e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

GenotypeQuality
all individuals: 8324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.93012931866435e-4
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.386e1

DP
type: SiteQuality
SIO_000300: 1.966605e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.148e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

GenotypeQuality
all individuals: 884
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 620
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38368
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6015
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1502
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.83e-1

FS
type: SiteQuality
SIO_000300: 4.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.966291e6

MQ
type: SiteQuality
SIO_000300: 5.902e1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

QD
type: SiteQuality
SIO_000300: 1.194e1

GenotypeQuality
all individuals: 38322
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8317
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6016
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2569
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
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: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501935832407936e-5
allele num: 66638
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 1.965996e6

QD
type: SiteQuality
SIO_000300: 1.352e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

GenotypeQuality
all individuals: 38289
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2567
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8317
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.355e1

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 1.965769e6

FS
type: SiteQuality
SIO_000300: 3.107e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6018
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 617
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2555
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.896871378910776e-4
allele num: 10356
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 1.322e0

QD
type: SiteQuality
SIO_000300: 1.23e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.96434e6

GenotypeQuality
all individuals: 33706
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6020
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 7752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2140
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1209
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66330
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 7.923930269413629e-4
allele num: 16406
num of homozygotes: 0

European (Finnish)
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: 8624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

FS
type: SiteQuality
SIO_000300: 7.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.822e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

DP
type: SiteQuality
SIO_000300: 1.916851e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.094e1

GenotypeQuality
all individuals: 2448
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6002
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.75e1
variant carriers: 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: 8.721437292865864e-5
allele num: 11466
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.146e0

QD
type: SiteQuality
SIO_000300: 1.099e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

DP
type: SiteQuality
SIO_000300: 1.859967e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.536e0

GenotypeQuality
all individuals: 606
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3594
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1865
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22725
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 2.033e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.812237e6

VQSLOD
type: SiteQuality
SIO_000300: -1.828e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

GenotypeQuality
all individuals: 6040
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5996
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 873
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19959
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.92169848071679e-4
allele num: 10268
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: 11384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65856
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.79317e6

QD
type: SiteQuality
SIO_000300: 1.629e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.295e0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

GenotypeQuality
all individuals: 2182
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2633
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.926977325477593e-5
allele num: 11202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15890
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542353013757789e-5
allele num: 64836
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

FS
type: SiteQuality
SIO_000300: 7.388e0

QD
type: SiteQuality
SIO_000300: 6.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

DP
type: SiteQuality
SIO_000300: 1.782296e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.254118082546733e-5
allele num: 64836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15890
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: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.388e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

DP
type: SiteQuality
SIO_000300: 1.782296e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

QD
type: SiteQuality
SIO_000300: 6.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

GenotypeQuality
all individuals: 5392
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5981
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3070
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1621
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1347
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5252
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 580
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.254118082546733e-5
allele num: 64836
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.926977325477593e-5
allele num: 11202
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.146633102580239e-4
allele num: 15890
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

QD
type: SiteQuality
SIO_000300: 6.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.388e0

VQSLOD
type: SiteQuality
SIO_000300: 9.91e-1

DP
type: SiteQuality
SIO_000300: 1.782296e6

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

GenotypeQuality
all individuals: 5270
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2621
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5967
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1337
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15834
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4986
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64566
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.979022362952701e-4
allele num: 10106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

DP
type: SiteQuality
SIO_000300: 1.777595e6

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

QD
type: SiteQuality
SIO_000300: 1.658e1

GenotypeQuality
all individuals: 352
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3791
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 852
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5070
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1434
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15532
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2637
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.164278008938204e-5
allele num: 64890
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.977456990310461e-4
allele num: 10114
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: 5
allele frequency: 3.129694541812719e-4
allele num: 15976
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.91583452211127e-5
allele num: 11216
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: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.069e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.466e0

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.265e0

DP
type: SiteQuality
SIO_000300: 1.772366e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 6.62e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
all individuals: 1861
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9339
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3421
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1514
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.052875809012089e-5
allele num: 65512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

DP
type: SiteQuality
SIO_000300: 1.789393e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.341e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.34e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2173
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7315
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3443
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9394
bin: 9.75e1
variant carriers: 57

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

South Asian
type: Population
allele count: 58
allele frequency: 3.897849462365591e-3
allele num: 14880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

DP
type: SiteQuality
SIO_000300: 1.813799e6

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.879e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.195e1

GenotypeQuality
all individuals: 18810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7450
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4400
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.778994719342852e-5
allele num: 10226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.739e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

QD
type: SiteQuality
SIO_000300: 7.79e0

MQRankSum
type: SiteQuality
SIO_000300: -1.107e0

DP
type: SiteQuality
SIO_000300: 1.820904e6

VQSLOD
type: SiteQuality
SIO_000300: -1.594e0

FS
type: SiteQuality
SIO_000300: 6.864e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

GenotypeQuality
all individuals: 1625
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3487
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.047108294228777e-5
allele num: 65636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14952
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.825168e6

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

QD
type: SiteQuality
SIO_000300: 1.036e1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

GenotypeQuality
all individuals: 182
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3209
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4551
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65918
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.870905e6

FS
type: SiteQuality
SIO_000300: 1.724e0

QD
type: SiteQuality
SIO_000300: 1.664e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9370
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3243
bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1