1-26135563-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135563
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135563
    reference: chr 1
allele count: 1
allele frequency: 8.343206127250579e-6
allele num: 119858
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.794T>A
  hgvsp: ENSP00000355141.2:p.Val265Glu
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.692T>A
  hgvsp: ENSP00000346109.4:p.Val231Glu
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.692T>A
  hgvsp: ENSP00000363434.1:p.Val231Glu
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 8594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val265Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-26135571-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135571
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135571
    reference: chr 1
allele count: 1
allele frequency: 8.343345347750633e-6
allele num: 119856
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.802C>T
  hgvsp: ENSP00000355141.2:p.Arg268Cys
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.700C>T
  hgvsp: ENSP00000363434.1:p.Arg234Cys
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.700C>T
  hgvsp: ENSP00000346109.4:p.Arg234Cys
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 92
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genotype quality: GenotypeQuality
  all individuals: 4187
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genotype quality: GenotypeQuality
  all individuals: 8595
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg268Cys
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

1-26135577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135577
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135577
    reference: chr 1
allele count: 1
allele frequency: 8.343206127250579e-6
allele num: 119858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.706G>A
  hgvsp: ENSP00000346109.4:p.Ala236Thr
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.706G>A
  hgvsp: ENSP00000363434.1:p.Ala236Thr
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.808G>A
  hgvsp: ENSP00000355141.2:p.Ala270Thr
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12867
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8588
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3116
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala270Thr
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum

1-26135585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135585
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135585
    reference: chr 1
allele count: 3
allele frequency: 2.502377258395476e-5
allele num: 119886
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.816G>A
  hgvsp: ENST00000361547.2:c.816G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.714G>A
  hgvsp: ENST00000354177.4:c.714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.714G>A
  hgvsp: ENST00000374315.1:c.714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12866
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8588
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 90
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genotype quality: GenotypeQuality
  all individuals: 41
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genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2011
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln272Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-26135589-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135589
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135589
    reference: chr 1
allele count: 4
allele frequency: 3.336503011193968e-5
allele num: 119886
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.820G>C
  hgvsp: ENSP00000355141.2:p.Ala274Pro
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.718G>C
  hgvsp: ENSP00000346109.4:p.Ala240Pro
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.718G>C
  hgvsp: ENSP00000363434.1:p.Ala240Pro
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12866
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Ala274Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

1-26135591-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135591
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135591
    reference: chr 1
allele count: 3
allele frequency: 2.50191813723855e-5
allele num: 119908
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.822T>C
  hgvsp: ENST00000361547.2:c.822T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.720T>C
  hgvsp: ENST00000374315.1:c.720T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.720T>C
  hgvsp: ENST00000354177.4:c.720T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12865
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8597
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala274Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

1-26135615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135615
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135615
    reference: chr 1
allele count: 53
allele frequency: 4.422563417890521e-4
allele num: 119840
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.846C>T
  hgvsp: ENST00000361547.2:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.744C>T
  hgvsp: ENST00000354177.4:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.744C>T
  hgvsp: ENST00000374315.1:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12829
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12880
  bin: 9.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 8563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5094
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser282Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

1-26135616-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135616
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135616
    reference: chr 1
allele count: 1
allele frequency: 8.343902276216541e-6
allele num: 119848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.745G>A
  hgvsp: ENSP00000346109.4:p.Asp249Asn
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.745G>A
  hgvsp: ENSP00000363434.1:p.Asp249Asn
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.847G>A
  hgvsp: ENSP00000355141.2:p.Asp283Asn
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12832
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp283Asn
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-26135621-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135621
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135621
    reference: chr 1
allele count: 62
allele frequency: 5.174514680598908e-4
allele num: 119818
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.852C>T
  hgvsp: ENST00000361547.2:c.852C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.750C>T
  hgvsp: ENST00000374315.1:c.750C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.750C>T
  hgvsp: ENST00000354177.4:c.750C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12820
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9763
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12845
  bin: 9.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 5098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3504
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe284Phe
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

1-26135626-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135626
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135626
    reference: chr 1
allele count: 1
allele frequency: 8.350312301680083e-6
allele num: 119756
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.857A>G
  hgvsp: ENSP00000355141.2:p.Tyr286Cys
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.755A>G
  hgvsp: ENSP00000363434.1:p.Tyr252Cys
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.755A>G
  hgvsp: ENSP00000346109.4:p.Tyr252Cys
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5096
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12791
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr286Cys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-26135627-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135627
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135627
    reference: chr 1
allele count: 1
allele frequency: 8.350172848577966e-6
allele num: 119758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.756C>G
  hgvsp: ENSP00000346109.4:p.Tyr252Ter
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.858C>G
  hgvsp: ENSP00000355141.2:p.Tyr286Ter
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.756C>G
  hgvsp: ENSP00000363434.1:p.Tyr252Ter
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5096
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12790
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr286Ter
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-26135628-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135628
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135628
    reference: chr 1
allele count: 1
allele frequency: 8.351288603831571e-6
allele num: 119742
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.859A>G
  hgvsp: ENSP00000355141.2:p.Thr287Ala
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.757A>G
  hgvsp: ENSP00000346109.4:p.Thr253Ala
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.757A>G
  hgvsp: ENSP00000363434.1:p.Thr253Ala
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12789
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3503
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr287Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-26135630-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135630
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135630
    reference: chr 1
allele count: 1
allele frequency: 8.353521009105338e-6
allele num: 119710
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.861T>A
  hgvsp: ENST00000361547.2:c.861T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.759T>A
  hgvsp: ENST00000374315.1:c.759T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.759T>A
  hgvsp: ENST00000354177.4:c.759T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12788
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5094
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr287Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-26135638-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135638
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135638
    reference: chr 1
allele count: 1
allele frequency: 8.360225391676559e-6
allele num: 119614
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.767T>A
  hgvsp: ENSP00000363434.1:p.Phe256Tyr
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.869T>A
  hgvsp: ENSP00000355141.2:p.Phe290Tyr
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.767T>A
  hgvsp: ENSP00000346109.4:p.Phe256Tyr
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5094
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12788
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe290Tyr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

1-26135638-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135638
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135637
    reference: chr 1
allele count: 1
allele frequency: 8.360225391676559e-6
allele num: 119614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.769delC
  hgvsp: ENSP00000346109.4:p.Arg257GlyfsTer49
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.871delC
  hgvsp: ENSP00000355141.2:p.Arg291GlyfsTer?
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.769delC
  hgvsp: ENSP00000363434.1:p.Arg257GlyfsTer49
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12788
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5094
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg291GlyfsTer?
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: TC
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-26135640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135640
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135640
    reference: chr 1
allele count: 1
allele frequency: 8.362462577979963e-6
allele num: 119582
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.871C>T
  hgvsp: ENSP00000355141.2:p.Arg291Trp
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.769C>T
  hgvsp: ENSP00000363434.1:p.Arg257Trp
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.769C>T
  hgvsp: ENSP00000346109.4:p.Arg257Trp
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12783
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5089
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg291Trp
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

1-26135641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135641
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135641
    reference: chr 1
allele count: 1
allele frequency: 8.362882183715796e-6
allele num: 119576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.770G>A
  hgvsp: ENSP00000363434.1:p.Arg257Gln
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.872G>A
  hgvsp: ENSP00000355141.2:p.Arg291Gln
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.770G>A
  hgvsp: ENSP00000346109.4:p.Arg257Gln
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12656
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12782
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8531
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg291Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-26135648-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135648
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135648
    reference: chr 1
allele count: 2
allele frequency: 1.674088458834165e-5
allele num: 119468
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.872+7G>A
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.770+7G>A
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.770+7G>A
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
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genotype quality: GenotypeQuality
  all individuals: 5070
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 8.75e1
  variant carriers: 0
hgvs: c.872+7G>A
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

1-26135658-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135658
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135658
    reference: chr 1
allele count: 1
allele frequency: 8.387291575804341e-6
allele num: 119228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.770+17G>A
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.770+17G>A
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.872+17G>A
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9735
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12765
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

1-26135674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135674
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135674
    reference: chr 1
allele count: 5
allele frequency: 4.208470810046462e-5
allele num: 118808
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.872+33C>T
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.770+33C>T
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.770+33C>T
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12734
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-26135675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135675
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135675
    reference: chr 1
allele count: 6
allele frequency: 5.051100298014917e-5
allele num: 118786
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.872+34G>A
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.770+34G>A
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.770+34G>A
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-26135676-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135676
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135676
    reference: chr 1
allele count: 1
allele frequency: 8.412126922171002e-6
allele num: 118876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.770+35G>C
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.872+35G>C
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.770+35G>C
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1967
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12709
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

1-26135687-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135687
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135687
    reference: chr 1
allele count: 1
allele frequency: 8.448514751106756e-6
allele num: 118364
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.872+46C>G
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.770+46C>G
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.770+46C>G
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-26135688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26135688
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26135688
    reference: chr 1
allele count: 11
allele frequency: 9.293366226217431e-5
allele num: 118364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.770+47G>A
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.770+47G>A
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.872+47G>A
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11422
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

1-26136127-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136127
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136127
    reference: chr 1
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.771-47G>C
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.873-47G>C
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.771-47G>C
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-26136128-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136128
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136128
    reference: chr 1
allele count: 1
allele frequency: 8.313104778372627e-6
allele num: 120292
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.873-46G>C
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.771-46G>C
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.771-46G>C
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-26136132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136132
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136132
    reference: chr 1
allele count: 2
allele frequency: 1.662151156026129e-5
allele num: 120326
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.873-42G>A
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.771-42G>A
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.771-42G>A
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-26136137-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136137
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136137
    reference: chr 1
allele count: 4
allele frequency: 3.325020781379884e-5
allele num: 120300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.771-37T>C
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.873-37T>C
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.771-37T>C
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1886
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

1-26136144-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136144
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136144
    reference: chr 1
allele count: 1
allele frequency: 8.307717869901138e-6
allele num: 120370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.771-30C>T
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.873-30C>T
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.771-30C>T
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-26136167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136167
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136167
    reference: chr 1
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.771-7C>T
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.873-7C>T
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.771-7C>T
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44897
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2498
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genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 8.25e1
  variant carriers: 0
hgvs: c.873-7C>T
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-26136174-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136174
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136174
    reference: chr 1
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.771G>C
  hgvsp: ENST00000354177.4:c.771G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.873G>C
  hgvsp: ENST00000361547.2:c.873G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.771G>C
  hgvsp: ENST00000374315.1:c.771G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44904
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.25e1
  variant carriers: 0
hgvs: c.873G>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

1-26136179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136179
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136179
    reference: chr 1
allele count: 2
allele frequency: 1.658539821541115e-5
allele num: 120588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.776A>G
  hgvsp: ENSP00000346109.4:p.His259Arg
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.776A>G
  hgvsp: ENSP00000363434.1:p.His259Arg
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.878A>G
  hgvsp: ENSP00000355141.2:p.His293Arg
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44905
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
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genotype quality: GenotypeQuality
  all individuals: 13
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His293Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-26136180-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136180
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136180
    reference: chr 1
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.879T>C
  hgvsp: ENST00000361547.2:c.879T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.777T>C
  hgvsp: ENST00000374315.1:c.777T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.777T>C
  hgvsp: ENST00000354177.4:c.777T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His293His
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-26136183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136183
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136183
    reference: chr 1
allele count: 9
allele frequency: 7.46256280990365e-5
allele num: 120602
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.882C>T
  hgvsp: ENST00000361547.2:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.780C>T
  hgvsp: ENST00000374315.1:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.780C>T
  hgvsp: ENST00000354177.4:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44909
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala294Ala
num of homozygotes: 1
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-26136186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136186
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136186
    reference: chr 1
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.885G>A
  hgvsp: ENST00000361547.2:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.783G>A
  hgvsp: ENST00000374315.1:c.783G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.783G>A
  hgvsp: ENST00000354177.4:c.783G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44905
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2502
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu295Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-26136196-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136196
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136196
    reference: chr 1
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.895A>C
  hgvsp: ENSP00000355141.2:p.Ser299Arg
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.793A>C
  hgvsp: ENSP00000346109.4:p.Ser265Arg
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.793A>C
  hgvsp: ENSP00000363434.1:p.Ser265Arg
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44905
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser299Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-26136203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136203
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136203
    reference: chr 1
allele count: 1
allele frequency: 8.288712431410904e-6
allele num: 120646
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.902C>T
  hgvsp: ENSP00000355141.2:p.Pro301Leu
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.800C>T
  hgvsp: ENSP00000363434.1:p.Pro267Leu
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.800C>T
  hgvsp: ENSP00000346109.4:p.Pro267Leu
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44907
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro301Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-26136204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136204
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136204
    reference: chr 1
allele count: 8
allele frequency: 6.630969945128723e-5
allele num: 120646
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.903G>A
  hgvsp: ENST00000361547.2:c.903G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.801G>A
  hgvsp: ENST00000354177.4:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.801G>A
  hgvsp: ENST00000374315.1:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44906
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro301Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

1-26136207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136207
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136207
    reference: chr 1
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.906C>T
  hgvsp: ENST00000361547.2:c.906C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.804C>T
  hgvsp: ENST00000354177.4:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.804C>T
  hgvsp: ENST00000374315.1:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2523
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44907
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro302Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-26136208-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136208
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136208
    reference: chr 1
allele count: 54
allele frequency: 4.475533748839676e-4
allele num: 120656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.805G>A
  hgvsp: ENSP00000363434.1:p.Asp269Asn
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.907G>A
  hgvsp: ENSP00000355141.2:p.Asp303Asn
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.805G>A
  hgvsp: ENSP00000346109.4:p.Asp269Asn
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44931
  bin: 9.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp303Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

1-26136210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136210
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136210
    reference: chr 1
allele count: 6
allele frequency: 4.972485579791819e-5
allele num: 120664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.807C>T
  hgvsp: ENST00000354177.4:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.807C>T
  hgvsp: ENST00000374315.1:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.909C>T
  hgvsp: ENST00000361547.2:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44925
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp303Asp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

1-26136219-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136219
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136219
    reference: chr 1
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.918T>C
  hgvsp: ENST00000361547.2:c.918T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.816T>C
  hgvsp: ENST00000374315.1:c.816T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.816T>C
  hgvsp: ENST00000354177.4:c.816T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44923
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe306Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

1-26136227-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136227
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136227
    reference: chr 1
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.824C>G
  hgvsp: ENSP00000346109.4:p.Ser275Cys
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.824C>G
  hgvsp: ENSP00000363434.1:p.Ser275Cys
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.926C>G
  hgvsp: ENSP00000355141.2:p.Ser309Cys
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44924
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser309Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-26136228-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136228
    reference: chr 1
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.825C>G
  hgvsp: ENST00000374315.1:c.825C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.927C>G
  hgvsp: ENST00000361547.2:c.927C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.825C>G
  hgvsp: ENST00000354177.4:c.825C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
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genotype quality: GenotypeQuality
  all individuals: 18
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser309Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-26136234-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136234
    reference: chr 1
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.831T>C
  hgvsp: ENST00000374315.1:c.831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.933T>C
  hgvsp: ENST00000361547.2:c.933T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.831T>C
  hgvsp: ENST00000354177.4:c.831T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3833
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44928
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala311Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

1-26136236-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136236
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136236
    reference: chr 1
allele count: 5
allele frequency: 4.142570713682082e-5
allele num: 120698
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.935A>G
  hgvsp: ENSP00000355141.2:p.Gln312Arg
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.833A>G
  hgvsp: ENSP00000363434.1:p.Gln278Arg
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.833A>G
  hgvsp: ENSP00000346109.4:p.Gln278Arg
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44925
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Gln312Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-26136243-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136243
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136243
    reference: chr 1
allele count: 2
allele frequency: 1.656973372437905e-5
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.840C>T
  hgvsp: ENST00000354177.4:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.840C>T
  hgvsp: ENST00000374315.1:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.942C>T
  hgvsp: ENST00000361547.2:c.942C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1962
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr314Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

1-26136244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136244
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136244
    reference: chr 1
allele count: 21
allele frequency: 1.739908530522967e-4
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.841G>A
  hgvsp: ENSP00000346109.4:p.Gly281Ser
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.841G>A
  hgvsp: ENSP00000363434.1:p.Gly281Ser
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.943G>A
  hgvsp: ENSP00000355141.2:p.Gly315Ser
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44935
  bin: 9.75e1
  variant carriers: 21
hgvs: p.Gly315Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

1-26136245-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136245
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136245
    reference: chr 1
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.842G>C
  hgvsp: ENSP00000346109.4:p.Gly281Ala
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.944G>C
  hgvsp: ENSP00000355141.2:p.Gly315Ala
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.842G>C
  hgvsp: ENSP00000363434.1:p.Gly281Ala
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly315Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

1-26136248-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136248
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136248
    reference: chr 1
allele count: 2
allele frequency: 1.656973372437905e-5
allele num: 120702
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.947A>G
  hgvsp: ENSP00000355141.2:p.His316Arg
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.845A>G
  hgvsp: ENSP00000346109.4:p.His282Arg
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.845A>G
  hgvsp: ENSP00000363434.1:p.His282Arg
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6542
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44931
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His316Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS

1-26136258-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136258
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136258
    reference: chr 1
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.855C>G
  hgvsp: ENST00000354177.4:c.855C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.855C>G
  hgvsp: ENST00000374315.1:c.855C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.957C>G
  hgvsp: ENST00000361547.2:c.957C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 185
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44933
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu319Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

1-26136260-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136260
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136260
    reference: chr 1
allele count: 1
allele frequency: 8.284592315212168e-6
allele num: 120706
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.959C>T
  hgvsp: ENSP00000355141.2:p.Ser320Phe
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.857C>T
  hgvsp: ENSP00000346109.4:p.Ser286Phe
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.857C>T
  hgvsp: ENSP00000363434.1:p.Ser286Phe
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1253
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genotype quality: GenotypeQuality
  all individuals: 1962
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3868
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser320Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

1-26136267-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136267
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136267
    reference: chr 1
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.864C>T
  hgvsp: ENST00000354177.4:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.966C>T
  hgvsp: ENST00000361547.2:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.864C>T
  hgvsp: ENST00000374315.1:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44932
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp322Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

1-26136275-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136275
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136275
    reference: chr 1
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.974A>G
  hgvsp: ENSP00000355141.2:p.His325Arg
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.872A>G
  hgvsp: ENSP00000363434.1:p.His291Arg
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.872A>G
  hgvsp: ENSP00000346109.4:p.His291Arg
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44933
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His325Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-26136276-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136276
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136276
    reference: chr 1
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.873C>A
  hgvsp: ENSP00000346109.4:p.His291Gln
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.873C>A
  hgvsp: ENSP00000363434.1:p.His291Gln
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.975C>A
  hgvsp: ENSP00000355141.2:p.His325Gln
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2503
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44933
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His325Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-26136276-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136276
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136276
    reference: chr 1
allele count: 2
allele frequency: 1.656781205474005e-5
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.975C>T
  hgvsp: ENST00000361547.2:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.873C>T
  hgvsp: ENST00000374315.1:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.873C>T
  hgvsp: ENST00000354177.4:c.873C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
hgvs: p.His325His
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-26136277-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136277
    reference: chr 1
allele count: 3
allele frequency: 2.485254158658626e-5
allele num: 120712
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.976G>A
  hgvsp: ENSP00000355141.2:p.Val326Ile
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.874G>A
  hgvsp: ENSP00000363434.1:p.Val292Ile
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.874G>A
  hgvsp: ENSP00000346109.4:p.Val292Ile
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1960
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44933
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Val326Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

1-26136280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136280
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136280
    reference: chr 1
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.979C>T
  hgvsp: ENSP00000355141.2:p.Arg327Cys
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.877C>T
  hgvsp: ENSP00000346109.4:p.Arg293Cys
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.877C>T
  hgvsp: ENSP00000363434.1:p.Arg293Cys
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44933
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg327Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-26136281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136281
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136281
    reference: chr 1
allele count: 7
allele frequency: 5.798734219159018e-5
allele num: 120716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.878G>A
  hgvsp: ENSP00000346109.4:p.Arg293His
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.980G>A
  hgvsp: ENSP00000355141.2:p.Arg327His
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.878G>A
  hgvsp: ENSP00000363434.1:p.Arg293His
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6263
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44935
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Arg327His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-26136282-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136282
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136282
    reference: chr 1
allele count: 3031
allele frequency: 2.510810318262397e-2
allele num: 120718
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.879C>T
  hgvsp: ENST00000354177.4:c.879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.981C>T
  hgvsp: ENST00000361547.2:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.879C>T
  hgvsp: ENST00000374315.1:c.879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 8.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 7.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 5.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 6.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 9.75e1
  variant carriers: 2386
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 8.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 7.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45564
  bin: 9.75e1
  variant carriers: 2982
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg327Arg
num of homozygotes: 46
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-26136283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136283
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136283
    reference: chr 1
allele count: 2
allele frequency: 1.656891009709381e-5
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.880G>A
  hgvsp: ENSP00000346109.4:p.Asp294Asn
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.880G>A
  hgvsp: ENSP00000363434.1:p.Asp294Asn
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.982G>A
  hgvsp: ENSP00000355141.2:p.Asp328Asn
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45043
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp328Asn
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-26136287-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136287
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136288
    reference: chr 1
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: TC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.988dupC
  hgvsp: ENSP00000355141.2:p.Arg330ProfsTer?
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.886dupC
  hgvsp: ENSP00000363434.1:p.Arg296ProfsTer22
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.886dupC
  hgvsp: ENSP00000346109.4:p.Arg296ProfsTer22
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg330ProfsTer?
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

1-26136290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136290
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136290
    reference: chr 1
allele count: 5
allele frequency: 4.14236479321315e-5
allele num: 120704
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.887G>A
  hgvsp: ENSP00000363434.1:p.Arg296Gln
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.989G>A
  hgvsp: ENSP00000355141.2:p.Arg330Gln
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.887G>A
  hgvsp: ENSP00000346109.4:p.Arg296Gln
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7346
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg330Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-26136292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136292
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136292
    reference: chr 1
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.991C>T
  hgvsp: ENSP00000355141.2:p.Leu331Phe
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.889C>T
  hgvsp: ENSP00000363434.1:p.Leu297Phe
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.889C>T
  hgvsp: ENSP00000346109.4:p.Leu297Phe
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45043
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu331Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-26136294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136294
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136294
    reference: chr 1
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.891C>T
  hgvsp: ENST00000354177.4:c.891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.993C>T
  hgvsp: ENST00000361547.2:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.891C>T
  hgvsp: ENST00000374315.1:c.891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45043
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu331Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-26136297-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136297
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136297
    reference: chr 1
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.996C>A
  hgvsp: ENSP00000355141.2:p.Phe332Leu
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.894C>A
  hgvsp: ENSP00000346109.4:p.Phe298Leu
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.894C>A
  hgvsp: ENSP00000363434.1:p.Phe298Leu
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe332Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

1-26136297-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136297
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136297
    reference: chr 1
allele count: 4
allele frequency: 3.31394674487581e-5
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.996C>T
  hgvsp: ENST00000361547.2:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.894C>T
  hgvsp: ENST00000374315.1:c.894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.894C>T
  hgvsp: ENST00000354177.4:c.894C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45044
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe332Phe
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

1-26136298-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136298
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136298
    reference: chr 1
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.895G>T
  hgvsp: ENSP00000346109.4:p.Val299Leu
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.997G>T
  hgvsp: ENSP00000355141.2:p.Val333Leu
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.895G>T
  hgvsp: ENSP00000363434.1:p.Val299Leu
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 45042
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
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genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val333Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

1-26136300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136300
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136300
    reference: chr 1
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.897G>A
  hgvsp: ENST00000374315.1:c.897G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.999G>A
  hgvsp: ENST00000361547.2:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.897G>A
  hgvsp: ENST00000354177.4:c.897G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
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genotype quality: GenotypeQuality
  all individuals: 3854
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val333Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-26136318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136318
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136318
    reference: chr 1
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.908+7G>A
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.1010+7G>A
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.908+7G>A
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1010+7G>A
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

1-26136319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136319
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136319
    reference: chr 1
allele count: 1
allele frequency: 8.286651861182008e-6
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.908+8C>T
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.908+8C>T
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.1010+8C>T
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45042
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  variant carriers: 1
hgvs: c.1010+8C>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

1-26136338-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136338
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136338
    reference: chr 1
allele count: 2
allele frequency: 1.657907389293234e-5
allele num: 120634
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.1010+27T>C
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.908+27T>C
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.908+27T>C
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-26136347-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136347
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136347
    reference: chr 1
allele count: 2
allele frequency: 1.65812731101494e-5
allele num: 120618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.908+36C>T
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.908+36C>T
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.1010+36C>T
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
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site quality: ClippingRankSum

1-26136349-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136349
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136349
    reference: chr 1
allele count: 1
allele frequency: 8.291873963515755e-6
allele num: 120600
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.1010+38T>G
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.908+38T>G
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.908+38T>G
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45037
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-26136361-TGCTCCCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26136361
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26136354
    reference: chr 1
allele count: 2
allele frequency: 1.658814942605003e-5
allele num: 120568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.908+51_908+57delGCTCCCC
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.1010+51_1010+57delGCTCCCC
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.908+51_908+57delGCTCCCC
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45036
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: TGCTCCCC
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-26137896-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 26137896
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 26137896
    reference: chr 1
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000355141
  ensembl transcript: ENST00000361547
  gene symbol: SEPN1
  hgvsc: ENST00000361547.2:c.1011-49A>C
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000346109
  ensembl transcript: ENST00000354177
  gene symbol: SEPN1
  hgvsc: ENST00000354177.4:c.909-49A>C
  variant of: http://identifiers.org/hgnc/15999
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000162430
  ensembl protein: ENSP00000363434
  ensembl transcript: ENST00000374315
  gene symbol: SEPN1
  hgvsc: ENST00000374315.1:c.909-49A>C
  variant of: http://identifiers.org/hgnc/15999
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24630
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56328
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
reference allele: A

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
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: 0
allele frequency: 0.0e0
allele num: 66020
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9684
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

DP
type: SiteQuality
SIO_000300: 2.193925e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 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: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514646632940535e-5
allele num: 66022
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.242e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

DP
type: SiteQuality
SIO_000300: 2.19408e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

GenotypeQuality
all individuals: 2010
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66012
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: 16508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.453e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

QD
type: SiteQuality
SIO_000300: 1.29e1

VQSLOD
type: SiteQuality
SIO_000300: -1.208e0

FS
type: SiteQuality
SIO_000300: 6.02e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 2.194065e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.722e0

GenotypeQuality
all individuals: 5098
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.377e1

DP
type: SiteQuality
SIO_000300: 2.194422e6

FS
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.658e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.172e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 3115
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.726e0

QD
type: SiteQuality
SIO_000300: 1.267e1

VQSLOD
type: SiteQuality
SIO_000300: 9.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

DP
type: SiteQuality
SIO_000300: 2.194566e6

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66042
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.089598352214212e-4
allele num: 9710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 1.9292e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.807e0

DP
type: SiteQuality
SIO_000300: 2.19478e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.106e0

QD
type: SiteQuality
SIO_000300: 1.342e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

GenotypeQuality
all individuals: 2009
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 45
allele frequency: 4.639175257731959e-3
allele num: 9700
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 8
allele frequency: 6.927606511950121e-4
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66002
num of homozygotes: 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: 894
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 2.19502e6

FS
type: SiteQuality
SIO_000300: 1.227e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 4191
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514967882680887e-5
allele num: 66008
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 5.69e-1

DP
type: SiteQuality
SIO_000300: 2.192065e6

VQSLOD
type: SiteQuality
SIO_000300: -3.062e0

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

FS
type: SiteQuality
SIO_000300: 1.9207e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.239e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

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

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

African
type: Population
allele count: 60
allele frequency: 6.188118811881188e-3
allele num: 9696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515427047341941e-5
allele num: 65988
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

FS
type: SiteQuality
SIO_000300: 1.256e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.323e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.773e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 2.193338e6

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

GenotypeQuality
all individuals: 3117
bin: 9.25e1
variant carriers: 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: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65942
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.188693e6

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.116e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.13e1

FS
type: SiteQuality
SIO_000300: 3.143e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.64e0

GenotypeQuality
all individuals: 4193
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65946
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3461e1

DP
type: SiteQuality
SIO_000300: 2.188287e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.436e0

VQSLOD
type: SiteQuality
SIO_000300: -1.753e0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.124e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

GenotypeQuality
all individuals: 716
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516714190377965e-5
allele num: 65932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
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: 894
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 2.188019e6

MQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 5.573e0

QD
type: SiteQuality
SIO_000300: 1.344e1

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517312536036173e-5
allele num: 65906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.378e0

DP
type: SiteQuality
SIO_000300: 2.187212e6

VQSLOD
type: SiteQuality
SIO_000300: -7.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.986e1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 3.132e0

QD
type: SiteQuality
SIO_000300: 1.401e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65842
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

QD
type: SiteQuality
SIO_000300: 1.146e1

MQ
type: SiteQuality
SIO_000300: 6.048e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 2.184397e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

GenotypeQuality
all individuals: 4195
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518787400139728e-5
allele num: 65842
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

MQ
type: SiteQuality
SIO_000300: 6.048e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

DP
type: SiteQuality
SIO_000300: 2.184397e6

QD
type: SiteQuality
SIO_000300: 1.146e1

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

DP
type: SiteQuality
SIO_000300: 2.183558e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

QD
type: SiteQuality
SIO_000300: 1.242e1

VQSLOD
type: SiteQuality
SIO_000300: 7.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

GenotypeQuality
all individuals: 4191
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19612
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519341213649761e-5
allele num: 65818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.182981e6

VQSLOD
type: SiteQuality
SIO_000300: -3.039e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.583e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 3116
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043213633597079e-5
allele num: 65720
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.466e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

DP
type: SiteQuality
SIO_000300: 2.17799e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.577e0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 1.1289e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.46e-1

GenotypeQuality
all individuals: 389
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65534
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.124e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.99e-1

DP
type: SiteQuality
SIO_000300: 2.167624e6

QD
type: SiteQuality
SIO_000300: 1.51e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
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Other
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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 count: 0
allele frequency: 0.0e0
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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
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.666360012266176e-5
allele num: 65220
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.72e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.14e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 886
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.06597988717194e-5
allele num: 65232
num of homozygotes: 0

South Asian
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allele frequency: 6.067961165048543e-5
allele num: 16480
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African
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allele frequency: 2.089864158829676e-4
allele num: 9570
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Latino
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allele frequency: 8.692628650904033e-5
allele num: 11504
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MQ
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9574
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.531628120692296e-5
allele num: 65290
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
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InbreedingCoeff
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

South Asian
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allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

Latino
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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: 882
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6522
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64946
num of homozygotes: 0

FS
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.063997e6

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6532
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 878
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European (Non-Finnish)
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allele frequency: 7.698703538324146e-5
allele num: 64946
num of homozygotes: 0

African
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allele frequency: 5.245488879563575e-4
allele num: 9532
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9748
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

Other
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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: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66426
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.069498e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.524e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.516e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
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Other
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allele frequency: 0.0e0
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South Asian
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allele count: 0
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African
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.850000000000001e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.941e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
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allele count: 0
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allele num: 892
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

African
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East Asian
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Latino
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African
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East Asian
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European (Non-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: 2.423948612289419e-4
allele num: 16502
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Other
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allele frequency: 0.0e0
allele num: 888
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.07549e6

FS
type: SiteQuality
SIO_000300: 6.79e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.319e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
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allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

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

African
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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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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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East Asian
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South Asian
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allele frequency: 6.056935190793458e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66566
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European (Finnish)
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allele num: 6598
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Finnish)
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Latino
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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: 0.0e0
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Other
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South Asian
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allele frequency: 6.056201550387597e-5
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African
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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FS
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DP
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ReadPosRankSum
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QD
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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allele frequency: 3.002732486562772e-5
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African
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South Asian
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6606
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QD
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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GenotypeQuality
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variant carriers: 0

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

African
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East Asian
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South Asian
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European (Non-Finnish)
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allele frequency: 1.501321162623108e-5
allele num: 66608
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Latino
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Other
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BaseQRankSum
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SIO_000300: 1.16e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 2.412e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.344e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

DP
type: SiteQuality
SIO_000300: 3.089024e6

GenotypeQuality
all individuals: 1960
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
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: 896
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.916825177243646e-4
allele num: 11566
num of homozygotes: 1

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: 9788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.16e-1

FS
type: SiteQuality
SIO_000300: 3.553e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.089635e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
all individuals: 3813
bin: 6.25e1
variant carriers: 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: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 4.922e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.089788e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.177e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.557e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.81e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 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: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66640
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
SIO_000300: 2.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.21e-1

DP
type: SiteQuality
SIO_000300: 3.090236e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

FS
type: SiteQuality
SIO_000300: 3.334e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

QD
type: SiteQuality
SIO_000300: 1.469e1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
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: 66648
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.774e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 7.54e0

DP
type: SiteQuality
SIO_000300: 3.09056e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050357121421283e-4
allele num: 66644
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.323e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.89e-1

DP
type: SiteQuality
SIO_000300: 3.090989e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
all individuals: 1538
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

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

South Asian
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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: 8620
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.642e0

DP
type: SiteQuality
SIO_000300: 3.091094e6

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

GenotypeQuality
all individuals: 1253
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.301023317228341e-4
allele num: 66646
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 30
allele frequency: 4.537205081669692e-3
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

DP
type: SiteQuality
SIO_000300: 3.093472e6

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.102040816326531e-4
allele num: 9800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

South Asian
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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: 6614
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.957e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.236e1

DP
type: SiteQuality
SIO_000300: 3.092668e6

GenotypeQuality
all individuals: 2500
bin: 9.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.11e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.648e1

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 8.080000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.093125e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

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

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

Latino
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allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8622
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Other
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allele num: 898
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.6e-2

FS
type: SiteQuality
SIO_000300: 8.73e-1

QD
type: SiteQuality
SIO_000300: 1.617e1

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-2

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.093417e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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African
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allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.0877e1

DP
type: SiteQuality
SIO_000300: 3.09358e6

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

Other
type: Population
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

East Asian
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South Asian
type: Population
allele count: 0
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allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.003e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
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

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

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

DP
type: SiteQuality
SIO_000300: 3.094217e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.118e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

East Asian
type: Population
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Latino
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African
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European (Finnish)
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Other
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South Asian
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FS
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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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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Latino
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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African
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European (Finnish)
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allele frequency: 3.023888720895071e-4
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Other
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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Latino
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South Asian
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Other
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DP
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MQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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African
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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 (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -9.94e-1

MQ
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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SIO_000300: 3.095525e6

FS
type: SiteQuality
SIO_000300: 1.649e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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Latino
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South Asian
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African
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East Asian
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MQ
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VQSLOD
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.499655079331754e-5
allele num: 66682
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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South Asian
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East Asian
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African
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MQRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele frequency: 6.056201550387597e-5
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Latino
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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VQSLOD
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

South Asian
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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
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Other
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allele num: 900
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East Asian
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African
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European (Finnish)
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BaseQRankSum
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MQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

East Asian
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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African
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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GenotypeQuality
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variant carriers: 2

African
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European (Finnish)
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South Asian
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Other
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East Asian
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Latino
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allele frequency: 8.643042350907519e-5
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European (Non-Finnish)
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allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

African
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European (Non-Finnish)
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allele frequency: 2.999040307101727e-5
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Latino
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Other
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East Asian
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South Asian
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European (Finnish)
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FS
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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African
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Latino
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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Other
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European (Non-Finnish)
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East Asian
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African
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South Asian
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Latino
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 3.787560726923769e-2
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African
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South Asian
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Latino
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Other
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allele frequency: 1.666666666666667e-2
allele num: 900
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East Asian
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European (Finnish)
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allele frequency: 1.436347142425159e-2
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

DP
type: SiteQuality
SIO_000300: 3.346809e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 3885
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.266e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.252e0

DP
type: SiteQuality
SIO_000300: 3.148705e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.932e0

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

QD
type: SiteQuality
SIO_000300: 1.47e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e-1

DP
type: SiteQuality
SIO_000300: 3.148496e6

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.004e1

GenotypeQuality
all individuals: 45042
bin: 9.75e1
variant carriers: 5

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

DP
type: SiteQuality
SIO_000300: 3.149073e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.315e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
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: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.106e0

DP
type: SiteQuality
SIO_000300: 3.14849e6

QD
type: SiteQuality
SIO_000300: 1.368e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.72e-1

FS
type: SiteQuality
SIO_000300: 1.835e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.893e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
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: 8624
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.148477e6

FS
type: SiteQuality
SIO_000300: 7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.013e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

QD
type: SiteQuality
SIO_000300: 1.475e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.62e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.012e1

FS
type: SiteQuality
SIO_000300: 2.476e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 3.148614e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.012e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

DP
type: SiteQuality
SIO_000300: 3.148614e6

FS
type: SiteQuality
SIO_000300: 2.476e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.941e0

QD
type: SiteQuality
SIO_000300: 1.158e1

DP
type: SiteQuality
SIO_000300: 3.148362e6

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 4.163e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.43e-1

GenotypeQuality
all individuals: 2016
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 1.771e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

DP
type: SiteQuality
SIO_000300: 3.14823e6

QD
type: SiteQuality
SIO_000300: 1.341e1

GenotypeQuality
all individuals: 2111
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

DP
type: SiteQuality
SIO_000300: 3.146351e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.328e0

QD
type: SiteQuality
SIO_000300: 9.99e0

VQSLOD
type: SiteQuality
SIO_000300: -5.908e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.019991840065279e-4
allele num: 9804
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

FS
type: SiteQuality
SIO_000300: 1.735e0

QD
type: SiteQuality
SIO_000300: 9.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.146319e6

MQRankSum
type: SiteQuality
SIO_000300: -7.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001020346917952e-5
allele num: 66644
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.625e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 3.143362e6

FS
type: SiteQuality
SIO_000300: 2.714e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.133e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
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allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

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

European (Finnish)
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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: 66632
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.326e1

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 3.141683e6

FS
type: SiteQuality
SIO_000300: 1.372e0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.308e0

GenotypeQuality
all individuals: 2493
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.116e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.14101e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.265e1

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003544182134919e-5
allele num: 66588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 3.139164e6

FS
type: SiteQuality
SIO_000300: 1.245e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.187e0

QD
type: SiteQuality
SIO_000300: 3.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.168e0

VQSLOD
type: SiteQuality
SIO_000300: -1.926e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.204e0

MQ
type: SiteQuality
SIO_000300: 5.683e1

GenotypeQuality
all individuals: 275
bin: 7.25e1
variant carriers: 0

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