5-35646948-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35646948
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35646948
    reference: chr 5
allele count: 1
allele frequency: 8.53373384990869e-6
allele num: 117182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.555+39T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.726+39T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.277+39T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.726+39T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.726+39T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.726+39T>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9096
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

5-35646949-A-ACAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35646949
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35646952
    reference: chr 5
allele count: 1
allele frequency: 8.532860044029558e-6
allele num: 117194
alternate allele: ACAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.726+40_726+41insCAG
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.555+40_555+41insCAG
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.726+40_726+41insCAG
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.726+40_726+41insCAG
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.726+40_726+41insCAG
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.277+40_277+41insCAG
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15592
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9930
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5477
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4013
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3886
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genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

5-35646951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35646951
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35646951
    reference: chr 5
allele count: 1
allele frequency: 8.567511994516792e-6
allele num: 116720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.726+42C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.277+42C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.726+42C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.726+42C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.726+42C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.555+42C>T
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  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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  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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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 265
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

5-35646955-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35646955
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35646955
    reference: chr 5
allele count: 1
allele frequency: 8.583543630152271e-6
allele num: 116502
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.726+46A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.555+46A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.726+46A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.277+46A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.726+46A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.726+46A>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11258
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  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: 3938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 7.75e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.75e1
  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
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

5-35646956-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35646956
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35646956
    reference: chr 5
allele count: 1
allele frequency: 8.609111884018045e-6
allele num: 116156
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.726+47G>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.277+47G>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.726+47G>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.555+47G>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.726+47G>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.726+47G>T
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5472
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4753
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-35646959-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35646959
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35646959
    reference: chr 5
allele count: 1
allele frequency: 8.629616845012081e-6
allele num: 115880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.726+50T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.726+50T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.555+50T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.726+50T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.277+50T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.726+50T>C
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5472
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5778
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
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: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

5-35649418-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649418
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649418
    reference: chr 5
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.727-45A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.727-45A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.278-45A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.556-45A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.727-45A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.727-45A>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40532
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-35649421-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649421
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649421
    reference: chr 5
allele count: 2
allele frequency: 1.659227795384028e-5
allele num: 120538
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.727-42G>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.556-42G>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.727-42G>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.278-42G>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.727-42G>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.727-42G>C
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

5-35649422-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649422
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649422
    reference: chr 5
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.556-41G>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.727-41G>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.278-41G>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.727-41G>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.727-41G>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.727-41G>C
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40532
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

5-35649463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649463
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649463
    reference: chr 5
allele count: 23
allele frequency: 1.898880486113404e-4
allele num: 121124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.556G>A
  hgvsp: ENSP00000426259.1:p.Asp186Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.727G>A
  hgvsp: ENSP00000421593.1:p.Asp243Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.278G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.727G>A
  hgvsp: ENSP00000412125.2:p.Asp243Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.727G>A
  hgvsp: ENSP00000348314.3:p.Asp243Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.727G>A
  hgvsp: ENSP00000282469.6:p.Asp243Asn
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40539
  bin: 9.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp243Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-35649466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649466
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649466
    reference: chr 5
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.730G>A
  hgvsp: ENSP00000348314.3:p.Val244Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.559G>A
  hgvsp: ENSP00000426259.1:p.Val187Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.730G>A
  hgvsp: ENSP00000282469.6:p.Val244Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.730G>A
  hgvsp: ENSP00000412125.2:p.Val244Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.730G>A
  hgvsp: ENSP00000421593.1:p.Val244Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.281G>A
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val244Met
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

5-35649473-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649473
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649473
    reference: chr 5
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.737A>G
  hgvsp: ENSP00000412125.2:p.Asp246Gly
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.737A>G
  hgvsp: ENSP00000348314.3:p.Asp246Gly
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.737A>G
  hgvsp: ENSP00000421593.1:p.Asp246Gly
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.288A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.566A>G
  hgvsp: ENSP00000426259.1:p.Asp189Gly
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.737A>G
  hgvsp: ENSP00000282469.6:p.Asp246Gly
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40502
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp246Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-35649485-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649485
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649485
    reference: chr 5
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.749A>T
  hgvsp: ENSP00000421593.1:p.Lys250Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.749A>T
  hgvsp: ENSP00000282469.6:p.Lys250Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.749A>T
  hgvsp: ENSP00000412125.2:p.Lys250Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.578A>T
  hgvsp: ENSP00000426259.1:p.Lys193Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.749A>T
  hgvsp: ENSP00000348314.3:p.Lys250Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.300A>T
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys250Met
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

5-35649489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649489
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649489
    reference: chr 5
allele count: 5
allele frequency: 4.124595789612618e-5
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.753C>T
  hgvsp: ENST00000282469.6:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.753C>T
  hgvsp: ENST00000509059.1:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.304C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.582C>T
  hgvsp: ENST00000510777.1:c.582C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.753C>T
  hgvsp: ENST00000356031.3:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.753C>T
  hgvsp: ENST00000440995.2:c.753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40529
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe251Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

5-35649490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649490
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649490
    reference: chr 5
allele count: 4
allele frequency: 3.299513321785036e-5
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.305G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.754G>A
  hgvsp: ENSP00000421593.1:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.754G>A
  hgvsp: ENSP00000412125.2:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.754G>A
  hgvsp: ENSP00000282469.6:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.583G>A
  hgvsp: ENSP00000426259.1:p.Glu195Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.754G>A
  hgvsp: ENSP00000348314.3:p.Glu252Lys
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu252Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

5-35649493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649493
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649493
    reference: chr 5
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.586G>A
  hgvsp: ENSP00000426259.1:p.Ala196Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.757G>A
  hgvsp: ENSP00000348314.3:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.757G>A
  hgvsp: ENSP00000282469.6:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.757G>A
  hgvsp: ENSP00000421593.1:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.757G>A
  hgvsp: ENSP00000412125.2:p.Ala253Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.308G>A
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala253Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-35649501-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649501
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649501
    reference: chr 5
allele count: 4
allele frequency: 3.299404457495422e-5
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.765A>G
  hgvsp: ENSP00000412125.2:p.Ile255Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.594A>G
  hgvsp: ENSP00000426259.1:p.Ile198Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.765A>G
  hgvsp: ENSP00000282469.6:p.Ile255Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.765A>G
  hgvsp: ENSP00000348314.3:p.Ile255Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.316A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.765A>G
  hgvsp: ENSP00000421593.1:p.Ile255Met
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40527
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile255Met
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

5-35649507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649507
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649507
    reference: chr 5
allele count: 8
allele frequency: 6.599244386517744e-5
allele num: 121226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.771G>A
  hgvsp: ENST00000282469.6:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.600G>A
  hgvsp: ENST00000510777.1:c.600G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.771G>A
  hgvsp: ENST00000356031.3:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.771G>A
  hgvsp: ENST00000509059.1:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.771G>A
  hgvsp: ENST00000440995.2:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.322G>A
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40528
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Lys257Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

5-35649510-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649510
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649510
    reference: chr 5
allele count: 4
allele frequency: 3.299567756623883e-5
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.774T>A
  hgvsp: ENSP00000282469.6:p.Asp258Glu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.774T>A
  hgvsp: ENSP00000348314.3:p.Asp258Glu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.774T>A
  hgvsp: ENSP00000412125.2:p.Asp258Glu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.774T>A
  hgvsp: ENSP00000421593.1:p.Asp258Glu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.603T>A
  hgvsp: ENSP00000426259.1:p.Asp201Glu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.325T>A
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp258Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

5-35649515-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649515
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649515
    reference: chr 5
allele count: 6
allele frequency: 4.949678270912391e-5
allele num: 121220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.779A>G
  hgvsp: ENSP00000412125.2:p.Gln260Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.608A>G
  hgvsp: ENSP00000426259.1:p.Gln203Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.779A>G
  hgvsp: ENSP00000421593.1:p.Gln260Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.779A>G
  hgvsp: ENSP00000282469.6:p.Gln260Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.779A>G
  hgvsp: ENSP00000348314.3:p.Gln260Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.330A>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5248
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln260Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-35649522-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649522
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649522
    reference: chr 5
allele count: 4
allele frequency: 3.300275573010346e-5
allele num: 121202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.786A>C
  hgvsp: ENSP00000421593.1:p.Lys262Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.786A>C
  hgvsp: ENSP00000282469.6:p.Lys262Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.786A>C
  hgvsp: ENSP00000348314.3:p.Lys262Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.786A>C
  hgvsp: ENSP00000412125.2:p.Lys262Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.337A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.615A>C
  hgvsp: ENSP00000426259.1:p.Lys205Asn
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40527
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys262Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-35649525-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649525
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649525
    reference: chr 5
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.789A>G
  hgvsp: ENST00000356031.3:c.789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.789A>G
  hgvsp: ENST00000509059.1:c.789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.789A>G
  hgvsp: ENST00000440995.2:c.789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.618A>G
  hgvsp: ENST00000510777.1:c.618A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.789A>G
  hgvsp: ENST00000282469.6:c.789A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.340A>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
hgvs: c.789A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

5-35649548-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649548
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649548
    reference: chr 5
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.791+21A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.620+21A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.342+21A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.791+21A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.791+21A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.791+21A>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

5-35649554-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649554
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649554
    reference: chr 5
allele count: 2
allele frequency: 1.652919882973272e-5
allele num: 120998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.791+27A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.791+27A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.620+27A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.342+27A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.791+27A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.791+27A>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-35649559-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649559
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649559
    reference: chr 5
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.791+32A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.342+32A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.620+32A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.791+32A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.791+32A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.791+32A>C
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40523
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

5-35649561-C-CATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649561
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649564
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 120918
alternate allele: CATT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.342+34_342+35insATT
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.791+34_791+35insATT
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.791+34_791+35insATT
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.620+34_620+35insATT
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.791+34_791+35insATT
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.791+34_791+35insATT
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-35649561-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649561
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649561
    reference: chr 5
allele count: 6
allele frequency: 4.962040391008783e-5
allele num: 120918
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.791+34C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.620+34C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.791+34C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.342+34C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.791+34C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.791+34C>T
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40522
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

5-35649562-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649562
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649562
    reference: chr 5
allele count: 3
allele frequency: 2.482703829984442e-5
allele num: 120836
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.791+35G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.791+35G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.620+35G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.791+35G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.791+35G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.342+35G>A
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

5-35649562-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649562
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649562
    reference: chr 5
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.791+35G>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.342+35G>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.791+35G>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.620+35G>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.791+35G>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.791+35G>T
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

5-35649578-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649578
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649578
    reference: chr 5
allele count: 2
allele frequency: 1.658952537367906e-5
allele num: 120558
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.342+51A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.791+51A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.620+51A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.791+51A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.791+51A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.791+51A>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

5-35649578-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35649578
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35649578
    reference: chr 5
allele count: 4
allele frequency: 3.317905074735812e-5
allele num: 120558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.791+51A>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.620+51A>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.791+51A>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.342+51A>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.791+51A>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.791+51A>T
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40514
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-35654601-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654601
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654601
    reference: chr 5
allele count: 1
allele frequency: 1.325029813170796e-5
allele num: 75470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.343-41A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.792-41A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.792-41A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.621-41A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.792-41A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.792-41A>C
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10605
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4919
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6401
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

5-35654610-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654610
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654610
    reference: chr 5
allele count: 1
allele frequency: 1.285743674141123e-5
allele num: 77776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.792-32T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.343-32T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.792-32T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.621-32T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.792-32T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.792-32T>C
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20872
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 18529
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 717
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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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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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  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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genotype quality: GenotypeQuality
  all individuals: 543
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genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

5-35654616-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654616
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654616
    reference: chr 5
allele count: 1
allele frequency: 1.20033609410635e-5
allele num: 83310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.343-26T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.792-26T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.792-26T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.792-26T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.792-26T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.621-26T>C
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 102
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.25e1
  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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  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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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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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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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: 1943
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genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

5-35654616-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654616
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654616
    reference: chr 5
allele count: 1
allele frequency: 1.20033609410635e-5
allele num: 83310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.343-26T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.792-26T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.792-26T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.621-26T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.792-26T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.792-26T>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  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: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3431
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

5-35654621-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654621
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654621
    reference: chr 5
allele count: 1
allele frequency: 1.117443289753045e-5
allele num: 89490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.792-21A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.343-21A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.792-21A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.792-21A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.792-21A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.621-21A>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13746
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

5-35654622-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654622
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654623
    reference: chr 5
allele count: 1
allele frequency: 1.102949286391812e-5
allele num: 90666
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.792-19dupT
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.621-19dupT
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.792-19dupT
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.792-19dupT
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.343-19dupT
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.792-19dupT
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5094
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30126
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

5-35654629-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654629
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654629
    reference: chr 5
allele count: 1
allele frequency: 1.009468817508227e-5
allele num: 99062
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.621-13C>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.792-13C>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.343-13C>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.792-13C>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.792-13C>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.792-13C>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

5-35654629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654629
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654629
    reference: chr 5
allele count: 3
allele frequency: 3.028406452524682e-5
allele num: 99062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.792-13C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.343-13C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.621-13C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.792-13C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.792-13C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.792-13C>T
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10359
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

5-35654630-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654630
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654630
    reference: chr 5
allele count: 1
allele frequency: 9.964526286420344e-6
allele num: 100356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.792-12T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.792-12T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.792-12T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.792-12T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.343-12T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.621-12T>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

5-35654646-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654646
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654646
    reference: chr 5
allele count: 1
allele frequency: 8.597565169543985e-6
allele num: 116312
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.796T>C
  hgvsp: ENSP00000348314.3:p.Ser266Pro
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.347T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.796T>C
  hgvsp: ENSP00000282469.6:p.Ser266Pro
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.625T>C
  hgvsp: ENSP00000426259.1:p.Ser209Pro
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.796T>C
  hgvsp: ENSP00000412125.2:p.Ser266Pro
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.796T>C
  hgvsp: ENSP00000421593.1:p.Ser266Pro
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser266Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

5-35654654-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654654
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654654
    reference: chr 5
allele count: 1
allele frequency: 8.44095551616443e-6
allele num: 118470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.804T>G
  hgvsp: ENST00000282469.6:c.804T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.355T>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.804T>G
  hgvsp: ENST00000440995.2:c.804T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.804T>G
  hgvsp: ENST00000356031.3:c.804T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.804T>G
  hgvsp: ENST00000509059.1:c.804T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.633T>G
  hgvsp: ENST00000510777.1:c.633T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr268Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

5-35654656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654656
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654656
    reference: chr 5
allele count: 5
allele frequency: 4.211803157167647e-5
allele num: 118714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.806C>T
  hgvsp: ENSP00000412125.2:p.Ser269Phe
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.806C>T
  hgvsp: ENSP00000348314.3:p.Ser269Phe
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.806C>T
  hgvsp: ENSP00000282469.6:p.Ser269Phe
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.357C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.635C>T
  hgvsp: ENSP00000426259.1:p.Ser212Phe
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.806C>T
  hgvsp: ENSP00000421593.1:p.Ser269Phe
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser269Phe
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

5-35654674-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654674
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654674
    reference: chr 5
allele count: 11
allele frequency: 9.155070244357148e-5
allele num: 120152
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.824A>G
  hgvsp: ENSP00000348314.3:p.Gln275Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.824A>G
  hgvsp: ENSP00000282469.6:p.Gln275Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.824A>G
  hgvsp: ENSP00000412125.2:p.Gln275Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.824A>G
  hgvsp: ENSP00000421593.1:p.Gln275Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.653A>G
  hgvsp: ENSP00000426259.1:p.Gln218Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.375A>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3385
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7261
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln275Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

5-35654675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654675
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654675
    reference: chr 5
allele count: 1
allele frequency: 8.320436656515735e-6
allele num: 120186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.654G>A
  hgvsp: ENST00000510777.1:c.654G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.825G>A
  hgvsp: ENST00000356031.3:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.376G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.825G>A
  hgvsp: ENST00000509059.1:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.825G>A
  hgvsp: ENST00000440995.2:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.825G>A
  hgvsp: ENST00000282469.6:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7264
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln275Gln
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

5-35654675-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654675
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654675
    reference: chr 5
allele count: 1
allele frequency: 8.320436656515735e-6
allele num: 120186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.825G>C
  hgvsp: ENSP00000282469.6:p.Gln275His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.376G>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.654G>C
  hgvsp: ENSP00000426259.1:p.Gln218His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.825G>C
  hgvsp: ENSP00000412125.2:p.Gln275His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.825G>C
  hgvsp: ENSP00000421593.1:p.Gln275His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.825G>C
  hgvsp: ENSP00000348314.3:p.Gln275His
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln275His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-35654680-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654680
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654680
    reference: chr 5
allele count: 1
allele frequency: 8.307717869901138e-6
allele num: 120370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.381C>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.830C>A
  hgvsp: ENSP00000421593.1:p.Thr277Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.830C>A
  hgvsp: ENSP00000348314.3:p.Thr277Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.659C>A
  hgvsp: ENSP00000426259.1:p.Thr220Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.830C>A
  hgvsp: ENSP00000412125.2:p.Thr277Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.830C>A
  hgvsp: ENSP00000282469.6:p.Thr277Asn
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr277Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

5-35654681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654681
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654681
    reference: chr 5
allele count: 2
allele frequency: 1.661157162079104e-5
allele num: 120398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.831C>T
  hgvsp: ENST00000440995.2:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.831C>T
  hgvsp: ENST00000509059.1:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.660C>T
  hgvsp: ENST00000510777.1:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.382C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.831C>T
  hgvsp: ENST00000356031.3:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.831C>T
  hgvsp: ENST00000282469.6:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr277Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-35654684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654684
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654684
    reference: chr 5
allele count: 3
allele frequency: 2.489378651088688e-5
allele num: 120512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.663C>T
  hgvsp: ENST00000510777.1:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.834C>T
  hgvsp: ENST00000440995.2:c.834C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.834C>T
  hgvsp: ENST00000282469.6:c.834C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.834C>T
  hgvsp: ENST00000356031.3:c.834C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.385C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.834C>T
  hgvsp: ENST00000509059.1:c.834C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr278Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

5-35654685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654685
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654685
    reference: chr 5
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.386G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.835G>A
  hgvsp: ENSP00000348314.3:p.Asp279Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.835G>A
  hgvsp: ENSP00000421593.1:p.Asp279Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.664G>A
  hgvsp: ENSP00000426259.1:p.Asp222Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.835G>A
  hgvsp: ENSP00000412125.2:p.Asp279Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.835G>A
  hgvsp: ENSP00000282469.6:p.Asp279Asn
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43448
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp279Asn
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

5-35654685-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654685
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654685
    reference: chr 5
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.835G>C
  hgvsp: ENSP00000282469.6:p.Asp279His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.664G>C
  hgvsp: ENSP00000426259.1:p.Asp222His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.835G>C
  hgvsp: ENSP00000421593.1:p.Asp279His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.835G>C
  hgvsp: ENSP00000348314.3:p.Asp279His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.386G>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.835G>C
  hgvsp: ENSP00000412125.2:p.Asp279His
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp279His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-35654688-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654688
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654688
    reference: chr 5
allele count: 10
allele frequency: 8.287338604080686e-5
allele num: 120666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.389T>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.838T>A
  hgvsp: ENSP00000421593.1:p.Leu280Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.838T>A
  hgvsp: ENSP00000282469.6:p.Leu280Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.667T>A
  hgvsp: ENSP00000426259.1:p.Leu223Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.838T>A
  hgvsp: ENSP00000412125.2:p.Leu280Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.838T>A
  hgvsp: ENSP00000348314.3:p.Leu280Met
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu280Met
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

5-35654688-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654688
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654688
    reference: chr 5
allele count: 1
allele frequency: 8.287338604080686e-6
allele num: 120666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.389T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.838T>C
  hgvsp: ENST00000509059.1:c.838T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.838T>C
  hgvsp: ENST00000440995.2:c.838T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.667T>C
  hgvsp: ENST00000510777.1:c.667T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.838T>C
  hgvsp: ENST00000356031.3:c.838T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.838T>C
  hgvsp: ENST00000282469.6:c.838T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu280Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum

5-35654698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654698
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654698
    reference: chr 5
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.399C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.848C>T
  hgvsp: ENSP00000348314.3:p.Thr283Ile
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.848C>T
  hgvsp: ENSP00000282469.6:p.Thr283Ile
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.677C>T
  hgvsp: ENSP00000426259.1:p.Thr226Ile
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.848C>T
  hgvsp: ENSP00000412125.2:p.Thr283Ile
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.848C>T
  hgvsp: ENSP00000421593.1:p.Thr283Ile
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43567
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7387
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr283Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

5-35654700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654700
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654700
    reference: chr 5
allele count: 3
allele frequency: 2.482539472377611e-5
allele num: 120844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.679T>C
  hgvsp: ENSP00000426259.1:p.Tyr227His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.850T>C
  hgvsp: ENSP00000421593.1:p.Tyr284His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.401T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.850T>C
  hgvsp: ENSP00000412125.2:p.Tyr284His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.850T>C
  hgvsp: ENSP00000282469.6:p.Tyr284His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.850T>C
  hgvsp: ENSP00000348314.3:p.Tyr284His
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr284His
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

5-35654704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654704
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654704
    reference: chr 5
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.854C>T
  hgvsp: ENSP00000282469.6:p.Ser285Leu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.854C>T
  hgvsp: ENSP00000412125.2:p.Ser285Leu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.854C>T
  hgvsp: ENSP00000348314.3:p.Ser285Leu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.854C>T
  hgvsp: ENSP00000421593.1:p.Ser285Leu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.405C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.683C>T
  hgvsp: ENSP00000426259.1:p.Ser228Leu
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser285Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum

5-35654708-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654708
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654708
    reference: chr 5
allele count: 1
allele frequency: 8.269383434771103e-6
allele num: 120928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.687T>C
  hgvsp: ENST00000510777.1:c.687T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.858T>C
  hgvsp: ENST00000440995.2:c.858T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.858T>C
  hgvsp: ENST00000509059.1:c.858T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.409T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.858T>C
  hgvsp: ENST00000356031.3:c.858T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.858T>C
  hgvsp: ENST00000282469.6:c.858T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp286Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum

5-35654711-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654711
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654711
    reference: chr 5
allele count: 72874
allele frequency: 6.01230941852023e-1
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.412C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.861C>T
  hgvsp: ENST00000509059.1:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.861C>T
  hgvsp: ENST00000356031.3:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.861C>T
  hgvsp: ENST00000440995.2:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.861C>T
  hgvsp: ENST00000282469.6:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.690C>T
  hgvsp: ENST00000510777.1:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 4.25e1
  variant carriers: 1442
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 7.75e1
  variant carriers: 2543
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 8.75e1
  variant carriers: 2600
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 5.25e1
  variant carriers: 2041
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 2.75e1
  variant carriers: 415
genotype depth: GenotypeDepth
  all individuals: 2527
  bin: 7.25e1
  variant carriers: 2515
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 9.25e1
  variant carriers: 2691
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 6.25e1
  variant carriers: 2301
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2464
  bin: 6.75e1
  variant carriers: 2448
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 2.25e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 4.75e1
  variant carriers: 1769
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 1047
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 5.75e1
  variant carriers: 2224
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.25e1
  variant carriers: 731
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 22794
  bin: 9.75e1
  variant carriers: 22777
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 8.25e1
  variant carriers: 2573
genotype quality: GenotypeQuality
  all individuals: 7804
  bin: 6.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 6.75e1
  variant carriers: 58
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 9
hgvs: p.Asp287Asp
num of homozygotes: 22356
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

5-35654712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654712
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654712
    reference: chr 5
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.862G>A
  hgvsp: ENSP00000412125.2:p.Glu288Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.862G>A
  hgvsp: ENSP00000282469.6:p.Glu288Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.862G>A
  hgvsp: ENSP00000421593.1:p.Glu288Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.862G>A
  hgvsp: ENSP00000348314.3:p.Glu288Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.691G>A
  hgvsp: ENSP00000426259.1:p.Glu231Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.413G>A
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11991
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7136
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu288Lys
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/5-35654713-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654713
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654713
    reference: chr 5
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.863A>C
  hgvsp: ENSP00000282469.6:p.Glu288Ala
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.414A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.863A>C
  hgvsp: ENSP00000421593.1:p.Glu288Ala
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.863A>C
  hgvsp: ENSP00000348314.3:p.Glu288Ala
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.692A>C
  hgvsp: ENSP00000426259.1:p.Glu231Ala
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.863A>C
  hgvsp: ENSP00000412125.2:p.Glu288Ala
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11825
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu288Ala
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

5-35654714-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654714
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654714
    reference: chr 5
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.415G>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.864G>C
  hgvsp: ENSP00000421593.1:p.Glu288Asp
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.693G>C
  hgvsp: ENSP00000426259.1:p.Glu231Asp
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.864G>C
  hgvsp: ENSP00000412125.2:p.Glu288Asp
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.864G>C
  hgvsp: ENSP00000348314.3:p.Glu288Asp
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.864G>C
  hgvsp: ENSP00000282469.6:p.Glu288Asp
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu288Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-35654728-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654728
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654728
    reference: chr 5
allele count: 4
allele frequency: 3.300438958381465e-5
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.429T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.878T>C
  hgvsp: ENSP00000282469.6:p.Ile293Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.707T>C
  hgvsp: ENSP00000426259.1:p.Ile236Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.878T>C
  hgvsp: ENSP00000421593.1:p.Ile293Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.878T>C
  hgvsp: ENSP00000412125.2:p.Ile293Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.878T>C
  hgvsp: ENSP00000348314.3:p.Ile293Thr
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7207
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile293Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-35654736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654736
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654736
    reference: chr 5
allele count: 5
allele frequency: 4.12452774157359e-5
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.886C>T
  hgvsp: ENSP00000421593.1:p.Arg296Cys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.886C>T
  hgvsp: ENSP00000348314.3:p.Arg296Cys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.437C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.715C>T
  hgvsp: ENSP00000426259.1:p.Arg239Cys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.886C>T
  hgvsp: ENSP00000412125.2:p.Arg296Cys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.886C>T
  hgvsp: ENSP00000282469.6:p.Arg296Cys
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7197
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg296Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

5-35654737-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654737
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654737
    reference: chr 5
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426259
  ensembl transcript: ENST00000510777
  gene symbol: SPEF2
  hgvsc: ENST00000510777.1:c.716G>A
  hgvsp: ENSP00000426259.1:p.Arg239His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.887G>A
  hgvsp: ENSP00000412125.2:p.Arg296His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.887G>A
  hgvsp: ENSP00000421593.1:p.Arg296His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.438G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.887G>A
  hgvsp: ENSP00000348314.3:p.Arg296His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.887G>A
  hgvsp: ENSP00000282469.6:p.Arg296His
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg296His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

5-35654752-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654752
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654752
    reference: chr 5
allele count: 7
allele frequency: 5.773767300681305e-5
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.902C>G
  hgvsp: ENSP00000282469.6:p.Ala301Gly
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.902C>G
  hgvsp: ENSP00000348314.3:p.Ala301Gly
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.902C>G
  hgvsp: ENSP00000421593.1:p.Ala301Gly
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.902C>G
  hgvsp: ENSP00000412125.2:p.Ala301Gly
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.453C>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11205
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala301Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-35654760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654760
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654760
    reference: chr 5
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.910C>T
  hgvsp: ENSP00000412125.2:p.Arg304Ter
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.910C>T
  hgvsp: ENSP00000421593.1:p.Arg304Ter
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.461C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.910C>T
  hgvsp: ENSP00000282469.6:p.Arg304Ter
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.910C>T
  hgvsp: ENSP00000348314.3:p.Arg304Ter
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11776
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg304Ter
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

5-35654761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654761
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654761
    reference: chr 5
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.911G>A
  hgvsp: ENSP00000412125.2:p.Arg304Gln
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.911G>A
  hgvsp: ENSP00000282469.6:p.Arg304Gln
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.911G>A
  hgvsp: ENSP00000348314.3:p.Arg304Gln
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.911G>A
  hgvsp: ENSP00000421593.1:p.Arg304Gln
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000152582
  ensembl transcript: ENST00000502454
  gene symbol: SPEF2
  hgvsc: ENST00000502454.1:n.462G>A
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg304Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-35654772-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654772
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654772
    reference: chr 5
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.922G>A
  hgvsp: ENSP00000282469.6:p.Glu308Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.922G>A
  hgvsp: ENSP00000421593.1:p.Glu308Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.922G>A
  hgvsp: ENSP00000348314.3:p.Glu308Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.922G>A
  hgvsp: ENSP00000412125.2:p.Glu308Lys
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7081
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11773
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu308Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

5-35654777-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654777
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654777
    reference: chr 5
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.927A>G
  hgvsp: ENST00000509059.1:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.927A>G
  hgvsp: ENST00000356031.3:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.927A>G
  hgvsp: ENST00000440995.2:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.927A>G
  hgvsp: ENST00000282469.6:c.927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11771
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys309Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

5-35654780-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654780
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654780
    reference: chr 5
allele count: 2
allele frequency: 1.651173158529135e-5
allele num: 121126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.930A>G
  hgvsp: ENST00000282469.6:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.930A>G
  hgvsp: ENST00000509059.1:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.930A>G
  hgvsp: ENST00000440995.2:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.930A>G
  hgvsp: ENST00000356031.3:c.930A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11875
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2694
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11771
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7052
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg310Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-35654781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654781
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654781
    reference: chr 5
allele count: 9
allele frequency: 7.432733759476735e-5
allele num: 121086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.931C>T
  hgvsp: ENSP00000421593.1:p.Arg311Trp
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.931C>T
  hgvsp: ENSP00000282469.6:p.Arg311Trp
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.931C>T
  hgvsp: ENSP00000412125.2:p.Arg311Trp
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.931C>T
  hgvsp: ENSP00000348314.3:p.Arg311Trp
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15906
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11769
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2711
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg311Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

5-35654782-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654782
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654782
    reference: chr 5
allele count: 3
allele frequency: 2.478314745972738e-5
allele num: 121050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.932G>A
  hgvsp: ENSP00000412125.2:p.Arg311Gln
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.932G>A
  hgvsp: ENSP00000282469.6:p.Arg311Gln
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.932G>A
  hgvsp: ENSP00000348314.3:p.Arg311Gln
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.932G>A
  hgvsp: ENSP00000421593.1:p.Arg311Gln
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15888
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11760
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg311Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

5-35654784-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35654784
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35654784
    reference: chr 5
allele count: 25
allele frequency: 2.065842533218748e-4
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000421593
  ensembl transcript: ENST00000509059
  gene symbol: SPEF2
  hgvsc: ENST00000509059.1:c.934C>T
  hgvsp: ENSP00000421593.1:p.Arg312Trp
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.934C>T
  hgvsp: ENSP00000348314.3:p.Arg312Trp
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000282469
  ensembl transcript: ENST00000282469
  gene symbol: SPEF2
  hgvsc: ENST00000282469.6:c.934C>T
  hgvsp: ENSP00000282469.6:p.Arg312Trp
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.934C>T
  hgvsp: ENSP00000412125.2:p.Arg312Trp
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26683
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11757
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg312Trp
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 206
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3687
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5478
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 905
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.060445387062566e-4
allele num: 9430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.817e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.57e1

MQ
type: SiteQuality
SIO_000300: 4.614e1

DP
type: SiteQuality
SIO_000300: 1.661743e6

GenotypeQuality
all individuals: 1326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5793
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20041
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1783
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.059546514091969e-4
allele num: 9438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: -4.514e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

MQ
type: SiteQuality
SIO_000300: 4.606e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.655172e6

QD
type: SiteQuality
SIO_000300: 1.984e1

GenotypeQuality
all individuals: 5475
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2915
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 886
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549042691616581e-5
allele num: 64556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15738
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9392
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.533e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.638264e6

VQSLOD
type: SiteQuality
SIO_000300: -2.468e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
all individuals: 5473
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5060
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2779
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552602161222208e-5
allele num: 64408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.809e0

DP
type: SiteQuality
SIO_000300: 1.615398e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeQuality
all individuals: 4201
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4929
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5303
bin: 3.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.376737661012626e-5
allele num: 15682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64228
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.58e-1

DP
type: SiteQuality
SIO_000300: 1.610962e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

QD
type: SiteQuality
SIO_000300: 1.222e1

FS
type: SiteQuality
SIO_000300: 3.103e0

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.535e0

GenotypeQuality
all individuals: 678
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4531
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5416
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1316
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.228199459592238e-4
allele num: 8142
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.37e1

VQSLOD
type: SiteQuality
SIO_000300: 7.13e-1

DP
type: SiteQuality
SIO_000300: 1.602767e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5480
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66496
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.113e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.448e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 3.194489e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
all individuals: 2352
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40532
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2104
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5838
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007337904486948e-5
allele num: 66504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.6e1

VQSLOD
type: SiteQuality
SIO_000300: -3.572e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.716e0

FS
type: SiteQuality
SIO_000300: 8.111000000000001e0

DP
type: SiteQuality
SIO_000300: 3.19745e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

GenotypeQuality
all individuals: 318
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2355
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.920634920634921e-5
allele num: 10080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

FS
type: SiteQuality
SIO_000300: 1.163e0

VQSLOD
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

DP
type: SiteQuality
SIO_000300: 3.198548e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

GenotypeQuality
all individuals: 1360
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7915
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2635
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 2201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

East Asian
type: Population
allele count: 23
allele frequency: 2.661420967368665e-3
allele num: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

DP
type: SiteQuality
SIO_000300: 3.219679e6

QD
type: SiteQuality
SIO_000300: 1.142e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.437e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

FS
type: SiteQuality
SIO_000300: 1.286e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

GenotypeQuality
all individuals: 136
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40535
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.887e0

DP
type: SiteQuality
SIO_000300: 3.218787e6

FS
type: SiteQuality
SIO_000300: 2.462e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.254e1

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.876e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.357e0

QD
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 2.16881e2

DP
type: SiteQuality
SIO_000300: 3.219986e6

VQSLOD
type: SiteQuality
SIO_000300: -2.154e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8019
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2206
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40529
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2493
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.21941e6

VQSLOD
type: SiteQuality
SIO_000300: -1.201e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.362e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.529999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -1.763e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1138
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000390050706592e-5
allele num: 66658
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.901353965183752e-4
allele num: 10340
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.044e1

DP
type: SiteQuality
SIO_000300: 3.219813e6

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

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

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40528
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1136
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.471418653089562e-4
allele num: 8642
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.32e-1

FS
type: SiteQuality
SIO_000300: 1.092e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.19e1

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

DP
type: SiteQuality
SIO_000300: 3.219877e6

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40528
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2202
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1134
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.269e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.21954e6

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

FS
type: SiteQuality
SIO_000300: 5.012e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.588e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.62e-1

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2200
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2112
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.630701551285019e-4
allele num: 8638
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.985e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

QD
type: SiteQuality
SIO_000300: 1.493e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.65e-1

DP
type: SiteQuality
SIO_000300: 3.220056e6

GenotypeQuality
all individuals: 2111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8017
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.107482047718323e-4
allele num: 8634
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: 16490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

QD
type: SiteQuality
SIO_000300: 1.222e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

DP
type: SiteQuality
SIO_000300: 3.219732e6

GenotypeQuality
all individuals: 40527
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 8021
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2637
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2200
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.000600060006001e-5
allele num: 66660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

DP
type: SiteQuality
SIO_000300: 3.219239e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 7979
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40526
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2638
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.001710324961742e-5
allele num: 66654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.219088e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

FS
type: SiteQuality
SIO_000300: 1.138e0

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2108
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7944
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2635
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501800720288115e-5
allele num: 66640
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.234e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.21833e6

QD
type: SiteQuality
SIO_000300: 1.181e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 1.197e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.33e-1

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7950
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40526
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.63e0

QD
type: SiteQuality
SIO_000300: 1.305e1

FS
type: SiteQuality
SIO_000300: 2.379e0

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 3.218016e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1121
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40525
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.18e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

VQSLOD
type: SiteQuality
SIO_000300: -6.29e-2

FS
type: SiteQuality
SIO_000300: 1.503e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 1.36e1

DP
type: SiteQuality
SIO_000300: 3.211206e6

GenotypeQuality
all individuals: 1111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.218323586744639e-4
allele num: 16416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 3.207644e6

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.61e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 1.482e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502584445245823e-5
allele num: 66552
num of homozygotes: 0

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

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

East Asian
type: Population
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.281e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e0

FS
type: SiteQuality
SIO_000300: 5.451e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e0

DP
type: SiteQuality
SIO_000300: 3.204331e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 8.92e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40522
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

FS
type: SiteQuality
SIO_000300: 1.772e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 3.203506e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.695559433779329e-5
allele num: 10314
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.51450299077219e-5
allele num: 66538
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.361e1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

DP
type: SiteQuality
SIO_000300: 3.203506e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

FS
type: SiteQuality
SIO_000300: 1.772e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.007790176557283e-5
allele num: 66494
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.065e0

DP
type: SiteQuality
SIO_000300: 3.202841e6

FS
type: SiteQuality
SIO_000300: 8.35e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.011e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

MQ
type: SiteQuality
SIO_000300: 5.858e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503895088278642e-5
allele num: 66494
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.858e1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

Latino
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allele num: 11532
num of homozygotes: 0

African
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South Asian
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allele num: 16294
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Other
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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: 8572
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.61e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

South Asian
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allele num: 16294
num of homozygotes: 0

Other
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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: 6612
num of homozygotes: 0

East Asian
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allele frequency: 3.499766682221185e-4
allele num: 8572
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 7072
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele num: 632
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.287178079685284e-5
allele num: 43722
num of homozygotes: 0

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

African
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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 frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 44944
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 4126
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.353546291283162e-4
allele num: 7388
num of homozygotes: 0

FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4394
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5174
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.576292559899117e-4
allele num: 6344
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

DP
type: SiteQuality
SIO_000300: 1.084494e6

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.515e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

GenotypeQuality
all individuals: 78
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.083333333333333e-5
allele num: 48000
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

DP
type: SiteQuality
SIO_000300: 1.084494e6

GenotypeQuality
all individuals: 509
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.243852837862822e-5
allele num: 10818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.157e0

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

DP
type: SiteQuality
SIO_000300: 1.16001e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.716e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.773e1

GenotypeQuality
all individuals: 381
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.923816852635629e-5
allele num: 51980
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.172501e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.3e-1

FS
type: SiteQuality
SIO_000300: 5.465e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

GenotypeQuality
all individuals: 138
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
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variant carriers: 0

GenotypeQuality
all individuals: 112
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7630
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.942944017170452e-5
allele num: 11182
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6936
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56196
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 1.655e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

QD
type: SiteQuality
SIO_000300: 1.475e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

DP
type: SiteQuality
SIO_000300: 1.253275e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

GenotypeQuality
all individuals: 306
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 144
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variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.338458253256459e-5
allele num: 56196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6936
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.253275e6

QD
type: SiteQuality
SIO_000300: 1.475e1

FS
type: SiteQuality
SIO_000300: 1.655e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 35129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 431
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variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7760
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56808
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.893e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: -2.03e0

DP
type: SiteQuality
SIO_000300: 1.263518e6

FS
type: SiteQuality
SIO_000300: 4.955e0

VQSLOD
type: SiteQuality
SIO_000300: -1.333e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.399e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1666
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GenotypeQuality
all individuals: 642
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14520
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54435384235236e-5
allele num: 64752
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.774e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.902e0

MQRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.399288e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 43231
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52114390021296e-5
allele num: 65740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15422
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
SIO_000300: 9.81e0

DP
type: SiteQuality
SIO_000300: 1.419988e6

FS
type: SiteQuality
SIO_000300: 2.815e0

VQSLOD
type: SiteQuality
SIO_000300: 4.46e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1700
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7060
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 5.13663447709061e-4
allele num: 9734
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15496
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.899999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.258e0

QD
type: SiteQuality
SIO_000300: 1.234e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
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SIO_000300: 1.423015e6

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.558e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 588
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 744
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variant carriers: 0

African
type: Population
allele count: 11
allele frequency: 1.110213968510295e-3
allele num: 9908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.128e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.938e0

FS
type: SiteQuality
SIO_000300: 2.048e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.442094e6

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2374
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.181233774261343e-5
allele num: 16178
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
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: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.442679e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.231e1

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

FS
type: SiteQuality
SIO_000300: 4.133e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

GenotypeQuality
all individuals: 1565
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1919
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 587
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variant carriers: 0

GenotypeQuality
all individuals: 43402
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16178
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.604e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

FS
type: SiteQuality
SIO_000300: 4.133e0

QD
type: SiteQuality
SIO_000300: 1.231e1

DP
type: SiteQuality
SIO_000300: 1.442679e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

GenotypeQuality
all individuals: 2391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1576
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 7302
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.144770800049158e-5
allele num: 16274
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.433e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 3.691e0

QD
type: SiteQuality
SIO_000300: 1.539e1

DP
type: SiteQuality
SIO_000300: 1.44574e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.061e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.087e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.009328919650918e-5
allele num: 66460
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: 902
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

QD
type: SiteQuality
SIO_000300: 1.204e1

DP
type: SiteQuality
SIO_000300: 1.446701e6

FS
type: SiteQuality
SIO_000300: 1.838e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7343
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1796
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1598
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007337904486948e-5
allele num: 66504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9952
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.672e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.44933e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 2.719e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.52e-1

QD
type: SiteQuality
SIO_000300: 1.103e1

GenotypeQuality
all individuals: 1613
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7371
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
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: 66518
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

FS
type: SiteQuality
SIO_000300: 1.208e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.586e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.265e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

DP
type: SiteQuality
SIO_000300: 1.450294e6

GenotypeQuality
all individuals: 777
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7371
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43448
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.208e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.586e0

QD
type: SiteQuality
SIO_000300: 1.265e1

DP
type: SiteQuality
SIO_000300: 1.450294e6

GenotypeQuality
all individuals: 1815
bin: 9.75e1
variant carriers: 10

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

GenotypeQuality
all individuals: 351
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43492
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

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

East Asian
type: Population
allele count: 10
allele frequency: 1.156604210039325e-3
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 5.71e-1

DP
type: SiteQuality
SIO_000300: 1.451967e6

MQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.933e0

QD
type: SiteQuality
SIO_000300: 1.291e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

GenotypeQuality
all individuals: 608
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43492
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 784
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.291e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.933e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

FS
type: SiteQuality
SIO_000300: 5.71e-1

DP
type: SiteQuality
SIO_000300: 1.451967e6

MQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1972
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1819
bin: 9.75e1
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GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 9.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

FS
type: SiteQuality
SIO_000300: 3.016e0

VQSLOD
type: SiteQuality
SIO_000300: -6.067e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.77e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.758e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.454148e6

GenotypeQuality
all individuals: 267
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7392
bin: 6.75e1
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GenotypeQuality
all individuals: 790
bin: 9.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.972078181092939e-5
allele num: 10028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213592233009709e-4
allele num: 16480
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.334e0

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e0

DP
type: SiteQuality
SIO_000300: 1.454508e6

FS
type: SiteQuality
SIO_000300: 1.871e0

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.51e1

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

GenotypeQuality
all individuals: 7392
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 1630
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.319e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.049e-1

QD
type: SiteQuality
SIO_000300: 1.826e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.455476e6

FS
type: SiteQuality
SIO_000300: 2.816e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

GenotypeQuality
all individuals: 226
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 43511
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variant carriers: 0

GenotypeQuality
all individuals: 7398
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variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
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variant carriers: 0

GenotypeQuality
all individuals: 2464
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.009e0

QD
type: SiteQuality
SIO_000300: 6.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.914e0

DP
type: SiteQuality
SIO_000300: 1.456323e6

MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 41

GenotypeQuality
all individuals: 313
bin: 8.25e1
variant carriers: 106

GenotypeQuality
all individuals: 18
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variant carriers: 10

GenotypeQuality
all individuals: 208
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variant carriers: 127

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 64

GenotypeQuality
all individuals: 50113
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variant carriers: 49838

GenotypeQuality
all individuals: 413
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variant carriers: 82

GenotypeQuality
all individuals: 19
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variant carriers: 15

GenotypeQuality
all individuals: 315
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variant carriers: 37

Other
type: Population
allele count: 490
allele frequency: 5.408388520971302e-1
allele num: 906
num of homozygotes: 131

European (Non-Finnish)
type: Population
allele count: 36049
allele frequency: 5.405620201535508e-1
allele num: 66688
num of homozygotes: 9734

South Asian
type: Population
allele count: 10901
allele frequency: 6.602665051483949e-1
allele num: 16510
num of homozygotes: 3628

East Asian
type: Population
allele count: 6356
allele frequency: 7.349676225716929e-1
allele num: 8648
num of homozygotes: 2321

Latino
type: Population
allele count: 8741
allele frequency: 7.554883318928263e-1
allele num: 11570
num of homozygotes: 3316

African
type: Population
allele count: 7043
allele frequency: 6.856503115264797e-1
allele num: 10272
num of homozygotes: 2418

European (Finnish)
type: Population
allele count: 3294
allele frequency: 4.980344723314182e-1
allele num: 6614
num of homozygotes: 808

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.18e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

DP
type: SiteQuality
SIO_000300: 5.016314e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

QD
type: SiteQuality
SIO_000300: 2.113e1

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4208
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variant carriers: 0

GenotypeQuality
all individuals: 59
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variant carriers: 0

GenotypeQuality
all individuals: 26494
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variant carriers: 0

GenotypeQuality
all individuals: 1622
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variant carriers: 0

GenotypeQuality
all individuals: 2756
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.067e0

DP
type: SiteQuality
SIO_000300: 2.09085e6

QD
type: SiteQuality
SIO_000300: 3.063e1

VQSLOD
type: SiteQuality
SIO_000300: -3.035e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.13e-1

FS
type: SiteQuality
SIO_000300: 5.632e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

GenotypeQuality
all individuals: 7139
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 3496
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variant carriers: 0

GenotypeQuality
all individuals: 2702
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variant carriers: 0

GenotypeQuality
all individuals: 4207
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 26493
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.467e1

MQRankSum
type: SiteQuality
SIO_000300: -1.191e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.18e-1

DP
type: SiteQuality
SIO_000300: 2.090462e6

FS
type: SiteQuality
SIO_000300: 2.274e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.1e-2

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

GenotypeQuality
all individuals: 1622
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 26514
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 11824
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
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: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.090427e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 1.427e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

FS
type: SiteQuality
SIO_000300: 8.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

GenotypeQuality
all individuals: 102
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11815
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variant carriers: 4

GenotypeQuality
all individuals: 7114
bin: 6.75e1
variant carriers: 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: 10232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.996641880546894e-5
allele num: 66704
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.338e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

VQSLOD
type: SiteQuality
SIO_000300: 6.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.18e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

QD
type: SiteQuality
SIO_000300: 1.475e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.71e-1

DP
type: SiteQuality
SIO_000300: 2.089936e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
all individuals: 3478
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GenotypeQuality
all individuals: 7110
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

DP
type: SiteQuality
SIO_000300: 2.089745e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

QD
type: SiteQuality
SIO_000300: 1.264e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4183
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GenotypeQuality
all individuals: 3478
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GenotypeQuality
all individuals: 2699
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GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 11793
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.245e1

DP
type: SiteQuality
SIO_000300: 2.089608e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.23e-1

FS
type: SiteQuality
SIO_000300: 1.942e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.35e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQ
type: SiteQuality
SIO_000300: 5.852e1

MQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

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

GenotypeQuality
all individuals: 11784
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 26852
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1618
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028467595396729e-4
allele num: 16510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.089873e6

QD
type: SiteQuality
SIO_000300: 1.132e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.073e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

GenotypeQuality
all individuals: 2699
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4168
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7105
bin: 6.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

VQSLOD
type: SiteQuality
SIO_000300: -1.897e0

DP
type: SiteQuality
SIO_000300: 2.089494e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

FS
type: SiteQuality
SIO_000300: 1.3459e1

MQRankSum
type: SiteQuality
SIO_000300: -1.133e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1617
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11776
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 8.43e0

MQ
type: SiteQuality
SIO_000300: 4.174e1

DP
type: SiteQuality
SIO_000300: 2.0894e6

FS
type: SiteQuality
SIO_000300: 1.592e0

VQSLOD
type: SiteQuality
SIO_000300: -2.864e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.22e-1

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2697
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 16488
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.635e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.238e0

VQSLOD
type: SiteQuality
SIO_000300: -1.912e0

QD
type: SiteQuality
SIO_000300: 1.032e1

MQRankSum
type: SiteQuality
SIO_000300: 9.55e-1

FS
type: SiteQuality
SIO_000300: 2.425e0

DP
type: SiteQuality
SIO_000300: 2.088409e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.714e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 4163
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2712
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.186e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.559e1

DP
type: SiteQuality
SIO_000300: 2.086444e6

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4161
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0016509079994e-5
allele num: 66630
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.48e0

VQSLOD
type: SiteQuality
SIO_000300: 6.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

QD
type: SiteQuality
SIO_000300: 9.83e0

DP
type: SiteQuality
SIO_000300: 2.085911e6

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4154
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3461
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.041666666666667e-3
allele num: 8640
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.156e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
SIO_000300: 2.085394e6

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

GenotypeQuality
all individuals: 2714
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.13e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 2.084023e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0