17-26942229-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942229
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942229
    reference: chr 17
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6132A>G
  hgvsp: ENST00000544884.1:c.6132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6561A>G
  hgvsp: ENST00000528896.2:c.6561A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-1074T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-1074T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-1074T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6132A>G
  hgvsp: ENST00000389003.3:c.6132A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr2187Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

17-26942230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942230
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942230
    reference: chr 17
allele count: 2
allele frequency: 1.651664051531918e-5
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6560C>T
  hgvsp: ENSP00000436773.2:p.Thr2187Ile
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6131C>T
  hgvsp: ENSP00000467716.1:p.Thr2044Ile
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-1073G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-1073G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6131C>T
  hgvsp: ENSP00000446443.1:p.Thr2044Ile
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-1073G>A
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr2187Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

17-26942231-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942231
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942231
    reference: chr 17
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-1072T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-1072T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6559A>G
  hgvsp: ENSP00000436773.2:p.Thr2187Ala
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6130A>G
  hgvsp: ENSP00000446443.1:p.Thr2044Ala
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6130A>G
  hgvsp: ENSP00000467716.1:p.Thr2044Ala
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-1072T>C
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4741
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8808
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr2187Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

17-26942262-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942262
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942262
    reference: chr 17
allele count: 1
allele frequency: 8.347106058329577e-6
allele num: 119802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-1041T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6528A>G
  hgvsp: ENST00000528896.2:c.6528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6099A>G
  hgvsp: ENST00000389003.3:c.6099A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-1041T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-1041T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6099A>G
  hgvsp: ENST00000544884.1:c.6099A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35806
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: c.6528A>G
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-26942265-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942265
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942265
    reference: chr 17
allele count: 1
allele frequency: 8.369041242635244e-6
allele num: 119488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-1038C>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6097-1G>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6097-1G>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-1038C>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-1038C>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6526-1G>C
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4729
  bin: 9.75e1
  variant carriers: 1
hgvs: c.6526-1G>C
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-26942279-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942279
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942279
    reference: chr 17
allele count: 1
allele frequency: 8.533879501621437e-6
allele num: 117180
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-1024A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6526-15T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6097-15T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-1024A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6097-15T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-1024A>G
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4706
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-26942280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942280
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942280
    reference: chr 17
allele count: 1
allele frequency: 8.536210605388056e-6
allele num: 117148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-1023G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-1023G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6097-16C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6097-16C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-1023G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6526-16C>T
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-26942298-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942298
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942298
    reference: chr 17
allele count: 10
allele frequency: 8.702614265325304e-5
allele num: 114908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-1005A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6097-34T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6526-34T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6097-34T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-1005A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-1005A>G
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19858
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4696
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6223
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-26942305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942305
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942305
    reference: chr 17
allele count: 1
allele frequency: 8.822854722874133e-6
allele num: 113342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-998G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-998G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6526-41C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-998G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6097-41C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6097-41C>T
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4580
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

17-26942311-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942311
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942311
    reference: chr 17
allele count: 1
allele frequency: 8.962982880702698e-6
allele num: 111570
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-992A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-992A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6526-47T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6097-47T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6097-47T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-992A>G
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11513
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4905
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9464
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

17-26942314-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942314
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942314
    reference: chr 17
allele count: 2
allele frequency: 1.819174094960888e-5
allele num: 109940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6097-50G>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-989C>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-989C>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6526-50G>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-989C>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6097-50G>C
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11847
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4884
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5476
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5555
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-26942636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942636
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942636
    reference: chr 17
allele count: 2
allele frequency: 1.668223675430402e-5
allele num: 119888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6096+46G>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-667C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-667C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6096+46G>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-667C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6525+46G>A
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37324
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-26942643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942643
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942643
    reference: chr 17
allele count: 1
allele frequency: 8.32279113123377e-6
allele num: 120152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-660G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-660G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6525+39C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6096+39C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-660G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6096+39C>T
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-26942645-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942645
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942645
    reference: chr 17
allele count: 6
allele frequency: 4.992178919692482e-5
allele num: 120188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6096+37G>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-658C>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6096+37G>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6525+37G>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-658C>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-658C>A
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

17-26942658-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942658
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942658
    reference: chr 17
allele count: 2
allele frequency: 1.660908849322349e-5
allele num: 120416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-645C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6525+24G>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-645C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6096+24G>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-645C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6096+24G>A
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9027
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

17-26942660-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942660
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942660
    reference: chr 17
allele count: 2
allele frequency: 1.659365458648613e-5
allele num: 120528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6096+22C>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6096+22C>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6525+22C>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-643G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-643G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-643G>C
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

17-26942663-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942663
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942663
    reference: chr 17
allele count: 289
allele frequency: 2.395835060434732e-3
allele num: 120626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-640A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6096+19T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6525+19T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6096+19T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-640A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-640A>G
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 27194
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 15690
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3885
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 40494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

17-26942664-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942664
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942664
    reference: chr 17
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-639T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6525+18A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-639T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6096+18A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6096+18A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-639T>C
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15754
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

17-26942665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942665
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942665
    reference: chr 17
allele count: 2
allele frequency: 1.657275439177991e-5
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6096+17C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-638G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6525+17C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-638G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-638G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6096+17C>T
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27369
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-26942675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942675
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942675
    reference: chr 17
allele count: 3
allele frequency: 2.480527856327827e-5
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-628G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6525+7C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-628G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-628G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6096+7C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6096+7C>T
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41288
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9317
  bin: 6.75e1
  variant carriers: 0
hgvs: c.6525+7C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

17-26942679-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942679
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942679
    reference: chr 17
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6096+3A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-624T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-624T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-624T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6525+3A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6096+3A>G
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41579
  bin: 6.25e1
  variant carriers: 0
hgvs: c.6525+3A>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-26942706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942706
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942706
    reference: chr 17
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-597G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6072C>T
  hgvsp: ENST00000544884.1:c.6072C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.5G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-597G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6072C>T
  hgvsp: ENST00000389003.3:c.6072C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6501C>T
  hgvsp: ENST00000528896.2:c.6501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-597G>A
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp2167Asp
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/17-26942708-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942708
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942708
    reference: chr 17
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-595C>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6499G>T
  hgvsp: ENSP00000436773.2:p.Asp2167Tyr
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-595C>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.7C>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6070G>T
  hgvsp: ENSP00000446443.1:p.Asp2024Tyr
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-595C>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6070G>T
  hgvsp: ENSP00000467716.1:p.Asp2024Tyr
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp2167Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

17-26942713-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942713
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942713
    reference: chr 17
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-590T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6065A>G
  hgvsp: ENSP00000467716.1:p.Lys2022Arg
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-590T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6065A>G
  hgvsp: ENSP00000446443.1:p.Lys2022Arg
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6494A>G
  hgvsp: ENSP00000436773.2:p.Lys2165Arg
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.12T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-590T>C
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41778
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys2165Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-26942720-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942720
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942720
    reference: chr 17
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-583C>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6058G>T
  hgvsp: ENSP00000467716.1:p.Ala2020Ser
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-583C>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6058G>T
  hgvsp: ENSP00000446443.1:p.Ala2020Ser
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.19C>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6487G>T
  hgvsp: ENSP00000436773.2:p.Ala2163Ser
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-583C>A
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala2163Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

17-26942730-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942730
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942730
    reference: chr 17
allele count: 146
allele frequency: 1.203389271702219e-3
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-573G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.29G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-573G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6048C>T
  hgvsp: ENST00000389003.3:c.6048C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6477C>T
  hgvsp: ENST00000528896.2:c.6477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-573G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6048C>T
  hgvsp: ENST00000544884.1:c.6048C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15814
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28139
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 41865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 9.75e1
  variant carriers: 144
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp2159Asp
num of homozygotes: 1
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

17-26942730-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942730
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942730
    reference: chr 17
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.29G>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6048C>A
  hgvsp: ENSP00000467716.1:p.Asp2016Glu
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-573G>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6048C>A
  hgvsp: ENSP00000446443.1:p.Asp2016Glu
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-573G>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6477C>A
  hgvsp: ENSP00000436773.2:p.Asp2159Glu
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-573G>T
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28139
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15814
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp2159Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

17-26942732-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942732
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942732
    reference: chr 17
allele count: 94
allele frequency: 7.832811145923605e-4
allele num: 120008
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6475G>A
  hgvsp: ENSP00000436773.2:p.Asp2159Asn
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6046G>A
  hgvsp: ENSP00000446443.1:p.Asp2016Asn
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.31C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-571C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6046G>A
  hgvsp: ENSP00000467716.1:p.Asp2016Asn
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-571C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-571C>T
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 28042
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15781
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9453
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 41670
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9128
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 7
hgvs: p.Asp2159Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

17-26942739-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942739
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942739
    reference: chr 17
allele count: 5
allele frequency: 4.119973632168754e-5
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-564T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.38T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-564T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6039A>G
  hgvsp: ENST00000544884.1:c.6039A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-564T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6468A>G
  hgvsp: ENST00000528896.2:c.6468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6039A>G
  hgvsp: ENST00000389003.3:c.6039A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr2156Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-26942757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942757
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942757
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-546G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6021C>T
  hgvsp: ENST00000544884.1:c.6021C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6021C>T
  hgvsp: ENST00000389003.3:c.6021C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6450C>T
  hgvsp: ENST00000528896.2:c.6450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-546G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.56G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-546G>A
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr2150Tyr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-26942767-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942767
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942767
    reference: chr 17
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-536C>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.6011G>T
  hgvsp: ENSP00000467716.1:p.Cys2004Phe
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.66C>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-536C>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.6011G>T
  hgvsp: ENSP00000446443.1:p.Cys2004Phe
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6440G>T
  hgvsp: ENSP00000436773.2:p.Cys2147Phe
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-536C>A
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9418
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys2147Phe
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

17-26942792-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942792
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942792
    reference: chr 17
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5986G>A
  hgvsp: ENSP00000446443.1:p.Gly1996Ser
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-511C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6415G>A
  hgvsp: ENSP00000436773.2:p.Gly2139Ser
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-511C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-511C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5986G>A
  hgvsp: ENSP00000467716.1:p.Gly1996Ser
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.91C>T
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly2139Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-26942819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942819
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942819
    reference: chr 17
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.118G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-484G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-484G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-3C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-484G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-3C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-3C>T
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
hgvs: c.6391-3C>T
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

17-26942819-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942819
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942820
    reference: chr 17
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-4dupA
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-483dupT
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-4dupA
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-4dupA
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.119dupT
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-483dupT
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-483dupT
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28057
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
hgvs: c.6391-4dupA
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

17-26942820-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942820
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942819
    reference: chr 17
allele count: 1
allele frequency: 8.295037908323241e-6
allele num: 120554
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-5delT
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.121delA
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-5delT
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-5delT
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-481delA
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-481delA
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-481delA
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
hgvs: c.6391-5delT
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: TA
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

17-26942828-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942828
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942828
    reference: chr 17
allele count: 2
allele frequency: 1.667083437526048e-5
allele num: 119970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-475G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-12C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.127G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-475G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-475G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-12C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-12C>T
  variant of: http://identifiers.org/hgnc/28960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-26942828-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942828
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942828
    reference: chr 17
allele count: 3
allele frequency: 2.500625156289072e-5
allele num: 119970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-475G>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-475G>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-12C>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-475G>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-12C>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.127G>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-12C>A
  variant of: http://identifiers.org/hgnc/28960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27141
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ

17-26942831-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942831
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942831
    reference: chr 17
allele count: 1
allele frequency: 8.365120792344242e-6
allele num: 119544
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-472G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-472G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-15C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.130G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-15C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-15C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-472G>A
  variant of: http://identifiers.org/hgnc/41140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

17-26942834-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942834
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942834
    reference: chr 17
allele count: 2
allele frequency: 1.675940202453577e-5
allele num: 119336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-469G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-469G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-18C>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-18C>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.133G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-469G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-18C>G
  variant of: http://identifiers.org/hgnc/28960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

17-26942835-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942835
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942835
    reference: chr 17
allele count: 1
allele frequency: 8.385744234800838e-6
allele num: 119250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-468G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-19C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-19C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-19C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-468G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.134G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-468G>A
  variant of: http://identifiers.org/hgnc/41140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 987
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

17-26942841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942841
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942841
    reference: chr 17
allele count: 2
allele frequency: 1.705029838022165e-5
allele num: 117300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.140G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-25C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-462G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-25C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-25C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-462G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-462G>A
  variant of: http://identifiers.org/hgnc/41140
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11147
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5806
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-26942847-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942847
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942845
    reference: chr 17
allele count: 1
allele frequency: 8.450513791238508e-6
allele num: 118336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-453_1051-452delAG
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-33_5962-32delCT
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.149_150delAG
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-33_5962-32delCT
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-453_250-452delAG
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-453_461-452delAG
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-33_6391-32delCT
  variant of: http://identifiers.org/hgnc/28960
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 9590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: AAG
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-26942849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942849
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942849
    reference: chr 17
allele count: 4
allele frequency: 3.399510470492249e-5
allele num: 117664
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-33C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-33C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-454G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.148G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-454G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-454G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-33C>T
  variant of: http://identifiers.org/hgnc/28960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17071
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11483
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5821
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

17-26942849-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942849
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942849
    reference: chr 17
allele count: 1
allele frequency: 8.498776176230622e-6
allele num: 117664
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-454G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-33C>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-454G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-33C>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.148G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-454G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-33C>G
  variant of: http://identifiers.org/hgnc/28960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11483
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17071
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4923
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5821
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

17-26942850-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942850
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942850
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 116636
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-453A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-34T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-453A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-453A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.149A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-34T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-34T>C
  variant of: http://identifiers.org/hgnc/28960
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11482
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-26942850-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942850
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942849
    reference: chr 17
allele count: 1
allele frequency: 8.57368222504201e-6
allele num: 116636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-35delC
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-449delG
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-449delG
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-35delC
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.153delG
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-35delC
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-449delG
  variant of: http://identifiers.org/hgnc/41140
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17096
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: AG
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-26942855-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942855
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942855
    reference: chr 17
allele count: 1
allele frequency: 8.773776935495191e-6
allele num: 113976
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-39A>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-39A>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-448T>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-39A>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-448T>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-448T>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.154T>G
  variant of: http://identifiers.org/hgnc/41140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15847
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13883
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6963
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5744
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

17-26942857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942857
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942857
    reference: chr 17
allele count: 1
allele frequency: 8.592246356887545e-6
allele num: 116384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-41C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-446G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.156G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-41C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-41C>T
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-446G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-446G>A
  variant of: http://identifiers.org/hgnc/41140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17545
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4685
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-26942858-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942858
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942858
    reference: chr 17
allele count: 2
allele frequency: 1.724346041763661e-5
allele num: 115986
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-42C>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.157G>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-42C>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-445G>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-445G>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-42C>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-445G>T
  variant of: http://identifiers.org/hgnc/41140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18294
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11700
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7787
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7008
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

17-26942866-TCAGCTGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26942866
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26942859
    reference: chr 17
allele count: 2
allele frequency: 1.802613789995493e-5
allele num: 110950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.168_174delGCTGCCA
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6391-57_6391-51delGCAGCTG
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5962-57_5962-51delGCAGCTG
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5962-57_5962-51delGCAGCTG
  variant of: http://identifiers.org/hgnc/28960
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17690
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11741
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4894
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6325
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: TCAGCTGC
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

17-26943064-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943064
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943064
    reference: chr 17
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6390+50T>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.363A>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-239A>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-239A>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5961+50T>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5961+50T>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-239A>T
  variant of: http://identifiers.org/hgnc/41140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

17-26943075-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943075
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943075
    reference: chr 17
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-228T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-228T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6390+39A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5961+39A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5961+39A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.374T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-228T>C
  variant of: http://identifiers.org/hgnc/41140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4368
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9280
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-26943082-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943082
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943082
    reference: chr 17
allele count: 3
allele frequency: 2.477168761250475e-5
allele num: 121106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-221C>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5961+32G>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.381C>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-221C>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-221C>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6390+32G>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5961+32G>C
  variant of: http://identifiers.org/hgnc/28960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9057
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20572
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9408
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22903
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-26943086-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943086
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943086
    reference: chr 17
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5961+28A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-217T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-217T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.385T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6390+28A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5961+28A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-217T>C
  variant of: http://identifiers.org/hgnc/41140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

17-26943092-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943092
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943092
    reference: chr 17
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.391A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-211A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-211A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6390+22T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-211A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5961+22T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5961+22T>C
  variant of: http://identifiers.org/hgnc/28960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9411
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9401
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

17-26943100-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943100
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943098
    reference: chr 17
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.403_404delAG
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6390+12_6390+13delTC
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-199_1051-198delAG
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5961+12_5961+13delTC
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-199_461-198delAG
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-199_250-198delAG
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5961+12_5961+13delTC
  variant of: http://identifiers.org/hgnc/28960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9412
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3849
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: TGA
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

17-26943106-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943106
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943106
    reference: chr 17
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5961+8C>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.405G>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-197G>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5961+8C>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-197G>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6390+8C>A
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-197G>T
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: c.6390+8C>A
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-26943123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943123
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943123
    reference: chr 17
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6381C>T
  hgvsp: ENST00000528896.2:c.6381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5952C>T
  hgvsp: ENST00000389003.3:c.5952C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.422G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-180G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5952C>T
  hgvsp: ENST00000544884.1:c.5952C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-180G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-180G>A
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4448
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val2127Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

17-26943135-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943135
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943135
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-168A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5940T>C
  hgvsp: ENST00000544884.1:c.5940T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.434A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-168A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6369T>C
  hgvsp: ENST00000528896.2:c.6369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5940T>C
  hgvsp: ENST00000389003.3:c.5940T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-168A>G
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9408
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val2123Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

17-26943137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943137
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943137
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5938G>A
  hgvsp: ENSP00000467716.1:p.Val1980Ile
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6367G>A
  hgvsp: ENSP00000436773.2:p.Val2123Ile
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-166C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5938G>A
  hgvsp: ENSP00000446443.1:p.Val1980Ile
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-166C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-166C>T
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.436C>T
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9408
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val2123Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-26943156-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943156
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943156
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.455G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5919C>T
  hgvsp: ENST00000389003.3:c.5919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5919C>T
  hgvsp: ENST00000544884.1:c.5919C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6348C>T
  hgvsp: ENST00000528896.2:c.6348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-147G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-147G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-147G>A
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9406
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile2116Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

17-26943163-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943163
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943163
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5912C>G
  hgvsp: ENSP00000467716.1:p.Ser1971Cys
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6341C>G
  hgvsp: ENSP00000436773.2:p.Ser2114Cys
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-140G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5912C>G
  hgvsp: ENSP00000446443.1:p.Ser1971Cys
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-140G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.462G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-140G>C
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9404
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser2114Cys
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

17-26943182-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943182
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943182
    reference: chr 17
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-121G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5893C>T
  hgvsp: ENSP00000446443.1:p.Arg1965Ter
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.481G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5893C>T
  hgvsp: ENSP00000467716.1:p.Arg1965Ter
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-121G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6322C>T
  hgvsp: ENSP00000436773.2:p.Arg2108Ter
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-121G>A
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9394
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg2108Ter
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

17-26943195-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943195
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943195
    reference: chr 17
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-108G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.494G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-108G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6309C>G
  hgvsp: ENSP00000436773.2:p.Asp2103Glu
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-108G>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5880C>G
  hgvsp: ENSP00000446443.1:p.Asp1960Glu
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5880C>G
  hgvsp: ENSP00000467716.1:p.Asp1960Glu
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp2103Glu
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

17-26943201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943201
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943201
    reference: chr 17
allele count: 2
allele frequency: 1.65174589541145e-5
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-102G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5874C>T
  hgvsp: ENST00000389003.3:c.5874C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-102G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.500G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6303C>T
  hgvsp: ENST00000528896.2:c.6303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-102G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5874C>T
  hgvsp: ENST00000544884.1:c.5874C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9384
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9184
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp2101Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

17-26943208-A-ACAGGGTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943208
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943215
    reference: chr 17
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: ACAGGGTG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5860_5866dupCACCCTG
  hgvsp: ENSP00000446443.1:p.Val1956AlafsTer5
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-93_250-87dupAGGGTGC
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-93_461-87dupAGGGTGC
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-93_1051-87dupAGGGTGC
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5860_5866dupCACCCTG
  hgvsp: ENSP00000467716.1:p.Val1956AlafsTer5
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.509_515dupAGGGTGC
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6289_6295dupCACCCTG
  hgvsp: ENSP00000436773.2:p.Val2099AlafsTer5
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6761
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val2099AlafsTer5
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

17-26943213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943213
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943213
    reference: chr 17
allele count: 6
allele frequency: 4.967134129178602e-5
allele num: 120794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-90G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6291C>T
  hgvsp: ENST00000528896.2:c.6291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5862C>T
  hgvsp: ENST00000389003.3:c.5862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-90G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.512G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-90G>A
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5862C>T
  hgvsp: ENST00000544884.1:c.5862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19774
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13177
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 8.25e1
  variant carriers: 0
hgvs: c.6291C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

17-26943214-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943214
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943214
    reference: chr 17
allele count: 16
allele frequency: 1.324678765399391e-4
allele num: 120784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-89T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.513T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5861A>G
  hgvsp: ENSP00000446443.1:p.His1954Arg
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6290A>G
  hgvsp: ENSP00000436773.2:p.His2097Arg
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-89T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-89T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5861A>G
  hgvsp: ENSP00000467716.1:p.His1954Arg
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13126
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His2097Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

17-26943217-TAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943217
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943214
    reference: chr 17
allele count: 3
allele frequency: 2.485789569626966e-5
allele num: 120686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.519_521delGAA
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6289-5_6289-3delCTT
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5860-5_5860-3delCTT
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-83_461-81delGAA
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-83_1051-81delGAA
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-83_250-81delGAA
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5860-5_5860-3delCTT
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 2.25e1
  variant carriers: 0
hgvs: c.6289-5_6289-3delCTT
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: TAAG
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

17-26943218-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943218
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943218
    reference: chr 17
allele count: 1
allele frequency: 8.287888080359362e-6
allele num: 120658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-85A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-85A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-85A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5860-3T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6289-3T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5860-3T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.517A>G
  variant of: http://identifiers.org/hgnc/41140
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21354
  bin: 6.25e1
  variant carriers: 0
hgvs: c.6289-3T>C
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

17-26943221-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943221
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943221
    reference: chr 17
allele count: 3
allele frequency: 2.490163852781513e-5
allele num: 120474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-82A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6289-6T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.520A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-82A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-82A>G
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5860-6T>C
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5860-6T>C
  variant of: http://identifiers.org/hgnc/28960
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12653
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18461
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
hgvs: c.6289-6T>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-26943239-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26943239
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 26943239
    reference: chr 17
allele count: 1
allele frequency: 8.340561820244212e-6
allele num: 119896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000424210
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000424210.1:n.461-64T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000584675
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000584675.1:n.538T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000467716
  ensembl transcript: ENST00000389003
  gene symbol: KIAA0100
  hgvsc: ENST00000389003.3:c.5860-24A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000414744
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000414744.1:n.1051-64T>C
  variant of: http://identifiers.org/hgnc/41140
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000436773
  ensembl transcript: ENST00000528896
  gene symbol: KIAA0100
  hgvsc: ENST00000528896.2:c.6289-24A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000007202
  ensembl protein: ENSP00000446443
  ensembl transcript: ENST00000544884
  gene symbol: KIAA0100
  hgvsc: ENST00000544884.1:c.5860-24A>G
  variant of: http://identifiers.org/hgnc/28960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227543
  ensembl transcript: ENST00000554154
  gene symbol: SPAG5-AS1
  hgvsc: ENST00000554154.1:n.250-64T>C
  variant of: http://identifiers.org/hgnc/41140
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4744
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1085
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8811
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 902
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.323e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

FS
type: SiteQuality
SIO_000300: 1.911e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.01e1

DP
type: SiteQuality
SIO_000300: 1.895273e6

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4743
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.922e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

DP
type: SiteQuality
SIO_000300: 1.895269e6

QD
type: SiteQuality
SIO_000300: 1.356e1

GenotypeQuality
all individuals: 2015
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 900
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.44e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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MQRankSum
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DP
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.50952510340247e-5
allele num: 66246
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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MQRankSum
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DP
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 8.999999999999999e-3

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

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.511715797430083e-5
allele num: 66150
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8636
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10220
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65296
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.299e0

InbreedingCoeff
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QD
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VQSLOD
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DP
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14192
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65290
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.176193836744295e-4
allele num: 8502
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.718e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.357e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.802322e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 258
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64384
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 7.509762691498949e-4
allele num: 13316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
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VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.640922e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63710
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
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African
type: Population
allele count: 1
allele frequency: 9.976057462090982e-5
allele num: 10024
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12674
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.905e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

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

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

East Asian
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African
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.590381373453354e-5
allele num: 62878
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South Asian
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allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
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QD
type: SiteQuality
SIO_000300: 7.69e0

DP
type: SiteQuality
SIO_000300: 1.492617e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
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allele frequency: 0.0e0
allele num: 11702
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Latino
type: Population
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African
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allele count: 1
allele frequency: 1.018744906275469e-4
allele num: 9816
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.610461558282604e-5
allele num: 62094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.184e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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East Asian
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allele frequency: 2.313208420078649e-4
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
type: Population
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MQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 508
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GenotypeQuality
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type: Population
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East Asian
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
type: Population
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allele frequency: 1.508568670045861e-5
allele num: 66288
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African
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

MQ
type: SiteQuality
SIO_000300: 5.743e1

QD
type: SiteQuality
SIO_000300: 1.414e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.452e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.726e0

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

DP
type: SiteQuality
SIO_000300: 1.746487e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

GenotypeQuality
all individuals: 754
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38978
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 66314
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.187618882932734e-4
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15776
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.859999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 9.67e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.296e0

VQSLOD
type: SiteQuality
SIO_000300: 5.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.07e-1

DP
type: SiteQuality
SIO_000300: 1.749435e6

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9172
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.013409673045051e-5
allele num: 66370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
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: 10388
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.014e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.144e1

FS
type: SiteQuality
SIO_000300: 1.948e1

MQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

DP
type: SiteQuality
SIO_000300: 1.762277e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.84e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2396
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 11572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.829e0

DP
type: SiteQuality
SIO_000300: 1.764229e6

FS
type: SiteQuality
SIO_000300: 1.5388e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.795e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e0

QD
type: SiteQuality
SIO_000300: 1.137e1

GenotypeQuality
all individuals: 233
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 9.75e1
variant carriers: 288

Latino
type: Population
allele count: 12
allele frequency: 1.036985827860353e-3
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.516303856923494e-5
allele num: 66426
num of homozygotes: 0

African
type: Population
allele count: 273
allele frequency: 2.626515297286896e-2
allele num: 10394
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16076
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.773108e6

QD
type: SiteQuality
SIO_000300: 1.209e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.357e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

GenotypeQuality
all individuals: 469
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9274
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40733
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
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: 11572
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e-1

DP
type: SiteQuality
SIO_000300: 1.763244e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

QD
type: SiteQuality
SIO_000300: 1.678e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9278
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 2
allele frequency: 3.009781790820166e-5
allele num: 66450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.179e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.303e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 2.372e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.19e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.764227e6

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16288
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.843e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.35e-1

DP
type: SiteQuality
SIO_000300: 1.772993e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 7.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

GenotypeQuality
all individuals: 584
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2385
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

FS
type: SiteQuality
SIO_000300: 7.65e-1

QD
type: SiteQuality
SIO_000300: 1.31e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

DP
type: SiteQuality
SIO_000300: 1.774872e6

GenotypeQuality
all individuals: 9284
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 9.25e1
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GenotypeQuality
all individuals: 1262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
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: 16508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.078e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

QD
type: SiteQuality
SIO_000300: 8.029999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.477e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.778037e6

VQSLOD
type: SiteQuality
SIO_000300: -6.519999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

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

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

GenotypeQuality
all individuals: 84
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41738
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1952
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 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: 908
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.776806e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.879e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.022999999999999e-1

FS
type: SiteQuality
SIO_000300: 2.656e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-2

QD
type: SiteQuality
SIO_000300: 1.33e1

MQ
type: SiteQuality
SIO_000300: 5.87e1

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
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GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.97e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

DP
type: SiteQuality
SIO_000300: 1.776106e6

FS
type: SiteQuality
SIO_000300: 8.361000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

QD
type: SiteQuality
SIO_000300: 1.337e1

GenotypeQuality
all individuals: 87
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 5
bin: 1.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
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GenotypeQuality
all individuals: 566
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GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.128e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

DP
type: SiteQuality
SIO_000300: 1.776156e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

FS
type: SiteQuality
SIO_000300: 9.62e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.59e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2333
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 133
allele frequency: 1.27909213310252e-2
allele num: 10398
num of homozygotes: 1

Latino
type: Population
allele count: 6
allele frequency: 5.185825410544512e-4
allele num: 11570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.997660608241857e-5
allele num: 66684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 5.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

DP
type: SiteQuality
SIO_000300: 1.779847e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.037e0

GenotypeQuality
all individuals: 1994
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
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GenotypeQuality
all individuals: 55
bin: 2.75e1
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GenotypeQuality
all individuals: 2342
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GenotypeQuality
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GenotypeQuality
all individuals: 9272
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variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 11570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.037e0

QD
type: SiteQuality
SIO_000300: 1.344e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.779847e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 9

GenotypeQuality
all individuals: 386
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 501
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2228
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1355
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 98
bin: 1.25e1
variant carriers: 8

GenotypeQuality
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bin: 2.25e1
variant carriers: 13

GenotypeQuality
all individuals: 1160
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 168
bin: 3.25e1
variant carriers: 9

African
type: Population
allele count: 15
allele frequency: 1.473187978786093e-3
allele num: 10182
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.899936668777707e-3
allele num: 6316
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.473026163463765e-4
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 63
allele frequency: 9.553270857974706e-4
allele num: 65946
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.79634e6

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 1.29273e2

VQSLOD
type: SiteQuality
SIO_000300: -8.016e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.893e0

QD
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.149e0

MQ
type: SiteQuality
SIO_000300: 5.905e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

GenotypeQuality
all individuals: 1370
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 42946
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 446
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variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 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: 4
allele frequency: 5.996282304970918e-5
allele num: 66708
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.763514e6

QD
type: SiteQuality
SIO_000300: 1.473e1

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.77e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.73e-1

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
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GenotypeQuality
all individuals: 1182
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 443
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GenotypeQuality
all individuals: 2313
bin: 7.25e1
variant carriers: 0

Other
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: 11568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

DP
type: SiteQuality
SIO_000300: 1.763186e6

QD
type: SiteQuality
SIO_000300: 1.287e1

FS
type: SiteQuality
SIO_000300: 2.134e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: -4.584e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.171e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.123e0

GenotypeQuality
all individuals: 445
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 43075
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GenotypeQuality
all individuals: 1175
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.25e-1

FS
type: SiteQuality
SIO_000300: 6.451e0

QD
type: SiteQuality
SIO_000300: 1.45e1

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.551e0

DP
type: SiteQuality
SIO_000300: 1.76294e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.760328e6

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.305e0

FS
type: SiteQuality
SIO_000300: 2.499e0

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

QD
type: SiteQuality
SIO_000300: 1.015e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2150
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2097
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GenotypeQuality
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GenotypeQuality
all individuals: 1305
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 55
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GenotypeQuality
all individuals: 1097
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

DP
type: SiteQuality
SIO_000300: 1.735571e6

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.99e-1

MQ
type: SiteQuality
SIO_000300: 6.014e1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506750241080039e-5
allele num: 66368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

MQ
type: SiteQuality
SIO_000300: 6.014e1

DP
type: SiteQuality
SIO_000300: 1.735571e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

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

GenotypeQuality
all individuals: 1093
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1302
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506750241080039e-5
allele num: 66368
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11456
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: 10224
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.38e-1

DP
type: SiteQuality
SIO_000300: 1.735184e6

MQRankSum
type: SiteQuality
SIO_000300: -1.366e0

FS
type: SiteQuality
SIO_000300: 6.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 8392
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024528929619212e-5
allele num: 66126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

DP
type: SiteQuality
SIO_000300: 1.701166e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 2017
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variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 9.75e1
variant carriers: 3

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.759635599159075e-5
allele num: 11416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024528929619212e-5
allele num: 66126
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.86e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.19e-1

DP
type: SiteQuality
SIO_000300: 1.701166e6

FS
type: SiteQuality
SIO_000300: 5.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 571
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
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variant carriers: 0

GenotypeQuality
all individuals: 1974
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 441
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GenotypeQuality
all individuals: 1037
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.782715615668365e-5
allele num: 11386
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 1.694e0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.505e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

DP
type: SiteQuality
SIO_000300: 1.664363e6

GenotypeQuality
all individuals: 1401
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7890
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variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.037759348704396e-5
allele num: 65838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.640909e6

FS
type: SiteQuality
SIO_000300: 4.982e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.809e0

VQSLOD
type: SiteQuality
SIO_000300: 5.03e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

QD
type: SiteQuality
SIO_000300: 1.063e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 375
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.00080064051241e-4
allele num: 9992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65790
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.83e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.629596e6

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64818
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 2.079866888519135e-4
allele num: 9616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.297e0

MQ
type: SiteQuality
SIO_000300: 5.743e1

QD
type: SiteQuality
SIO_000300: 7.8e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.548446e6

VQSLOD
type: SiteQuality
SIO_000300: -5.95e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 841
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65368
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.016260162601626e-4
allele num: 9840
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.3e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.486000000000001e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.004e1

QD
type: SiteQuality
SIO_000300: 1.997e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 379
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GenotypeQuality
all individuals: 4923
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65044
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.568242640499554e-4
allele num: 11210
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16000
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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FS
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BaseQRankSum
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QD
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
SIO_000300: -8.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16000
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.537420822827624e-5
allele num: 65044
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.79e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.397069e6

MQ
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

QD
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

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

African
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allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16016
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64476
num of homozygotes: 0

Other
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.053e0

VQSLOD
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.838e1

FS
type: SiteQuality
SIO_000300: 7.381e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.394427e6

MQRankSum
type: SiteQuality
SIO_000300: -1.335e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.550964700043427e-5
allele num: 64476
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16016
num of homozygotes: 0

MQ
type: SiteQuality
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MQRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.394427e6

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 7.381e0

QD
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.198465963566635e-4
allele num: 8344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15814
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5738
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10990
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63030
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.537e0

MQRankSum
type: SiteQuality
SIO_000300: -5.19e-1

BaseQRankSum
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SIO_000300: -2.686e0

FS
type: SiteQuality
SIO_000300: 1.3122e1

DP
type: SiteQuality
SIO_000300: 1.325307e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

QD
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

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

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

Latino
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allele count: 1
allele frequency: 8.999280057595392e-5
allele num: 11112
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64362
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.293024e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

QD
type: SiteQuality
SIO_000300: 1.561e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15804
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64196
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.805054151624549e-4
allele num: 11080
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.6e-3

ClippingRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
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FS
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ReadPosRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.693e0

DP
type: SiteQuality
SIO_000300: 1.276959e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.246858664242346e-5
allele num: 61598
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 802
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Latino
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East Asian
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South Asian
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num of homozygotes: 0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -4.9e-3

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.609e1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

European (Finnish)
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allele num: 6610
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South Asian
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allele frequency: 6.124448799608035e-5
allele num: 16328
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 1.834189288334556e-4
allele num: 16356
num of homozygotes: 0

MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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SIO_000300: -3.7e-2

ClippingRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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South Asian
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African
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Latino
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European (Non-Finnish)
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allele num: 66670
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Other
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num of homozygotes: 0

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

MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.25e-1

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele num: 11574
num of homozygotes: 0

African
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European (Finnish)
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele num: 16512
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.501276084671971e-5
allele num: 66610
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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DP
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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allele num: 11536
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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Other
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DP
type: SiteQuality
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MQRankSum
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FS
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QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
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Other
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allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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DP
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MQ
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.52106817770812e-5
allele num: 66356
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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South Asian
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allele num: 16490
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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SIO_000300: 1.943917e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
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allele count: 15
allele frequency: 2.260738507912585e-4
allele num: 66350
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Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.519295047098146e-4
allele num: 6582
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African
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East Asian
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allele frequency: 0.0e0
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Latino
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InbreedingCoeff
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ClippingRankSum
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QD
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MQRankSum
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DP
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66284
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African
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European (Finnish)
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South Asian
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Latino
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Other
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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MQ
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QD
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VQSLOD
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FS
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MQRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Other
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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QD
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VQSLOD
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MQ
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 6578
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European (Non-Finnish)
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allele frequency: 3.023340186237756e-5
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Latino
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African
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East Asian
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Other
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South Asian
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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QD
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MQ
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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