19-47700538-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700538
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700538
    reference: chr 19
allele count: 29
allele frequency: 2.388876074994234e-4
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.539C>T
  hgvsp: ENSP00000470741.1:p.Thr180Ile
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*40C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.260C>T
  hgvsp: ENSP00000440955.1:p.Thr87Ile
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6390C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*713C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.782C>T
  hgvsp: ENSP00000270225.6:p.Thr261Ile
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11878C>T
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr261Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-47700541-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700541
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700541
    reference: chr 19
allele count: 6
allele frequency: 4.942339373970346e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11875A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6387A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.542A>G
  hgvsp: ENSP00000470741.1:p.Tyr181Cys
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.785A>G
  hgvsp: ENSP00000270225.6:p.Tyr262Cys
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*716A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*43A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.263A>G
  hgvsp: ENSP00000440955.1:p.Tyr88Cys
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6507
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4726
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr262Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-47700542-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700542
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700542
    reference: chr 19
allele count: 615
allele frequency: 5.065897858319604e-3
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*44T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.264T>C
  hgvsp: ENST00000540850.1:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.543T>C
  hgvsp: ENST00000598840.1:c.543T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.786T>C
  hgvsp: ENST00000270225.7:c.786T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11874T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6386T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*717T>C
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 5.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 6.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 9.75e1
  variant carriers: 370
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 6.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 8.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr262Tyr
num of homozygotes: 7
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum

19-47700554-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700554
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700554
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*56T>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.798T>A
  hgvsp: ENST00000270225.7:c.798T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*729T>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.555T>A
  hgvsp: ENST00000598840.1:c.555T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6374T>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.276T>A
  hgvsp: ENST00000540850.1:c.276T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11862T>A
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30881
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser266Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

19-47700554-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700554
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700554
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.276T>G
  hgvsp: ENST00000540850.1:c.276T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*56T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.798T>G
  hgvsp: ENST00000270225.7:c.798T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.555T>G
  hgvsp: ENST00000598840.1:c.555T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11862T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*729T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6374T>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser266Ser
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

19-47700568-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700568
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700568
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*70A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*743A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11848A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.812A>G
  hgvsp: ENSP00000270225.6:p.Gln271Arg
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6360A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.290A>G
  hgvsp: ENSP00000440955.1:p.Gln97Arg
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.569A>G
  hgvsp: ENSP00000470741.1:p.Gln190Arg
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2461
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln271Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

19-47700572-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700572
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700572
    reference: chr 19
allele count: 103
allele frequency: 8.483790195044807e-4
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11844A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.573A>G
  hgvsp: ENSP00000470741.1:p.Ile191Met
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.294A>G
  hgvsp: ENSP00000440955.1:p.Ile98Met
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.816A>G
  hgvsp: ENSP00000270225.6:p.Ile272Met
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*747A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6356A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*74A>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 9.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile272Met
num of homozygotes: 1
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

19-47700574-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700574
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700574
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*749G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11842G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*76G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.818G>A
  hgvsp: ENSP00000270225.6:p.Arg273Gln
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.296G>A
  hgvsp: ENSP00000440955.1:p.Arg99Gln
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.575G>A
  hgvsp: ENSP00000470741.1:p.Arg192Gln
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6354G>A
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg273Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-47700575-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700575
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700575
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*750A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.297A>G
  hgvsp: ENST00000540850.1:c.297A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6353A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.576A>G
  hgvsp: ENST00000598840.1:c.576A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11841A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.819A>G
  hgvsp: ENST00000270225.7:c.819A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*77A>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg273Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

19-47700580-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700580
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700580
    reference: chr 19
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*82A>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6348A>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11836A>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.302A>T
  hgvsp: ENSP00000440955.1:p.Asp101Val
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*755A>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.581A>T
  hgvsp: ENSP00000470741.1:p.Asp194Val
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.824A>T
  hgvsp: ENSP00000270225.6:p.Asp275Val
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp275Val
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-47700584-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700584
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700584
    reference: chr 19
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.585G>C
  hgvsp: ENST00000598840.1:c.585G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*86G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.828G>C
  hgvsp: ENST00000270225.7:c.828G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11832G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6344G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*759G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.306G>C
  hgvsp: ENST00000540850.1:c.306G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val276Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-47700591-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700591
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700591
    reference: chr 19
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.313T>C
  hgvsp: ENSP00000440955.1:p.Ser105Pro
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6337T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.592T>C
  hgvsp: ENSP00000470741.1:p.Ser198Pro
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*93T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*766T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.835T>C
  hgvsp: ENSP00000270225.6:p.Ser279Pro
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11825T>C
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4750
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser279Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-47700593-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700593
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700593
    reference: chr 19
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6335A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*95A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11823A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.837A>G
  hgvsp: ENST00000270225.7:c.837A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.594A>G
  hgvsp: ENST00000598840.1:c.594A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*768A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.315A>G
  hgvsp: ENST00000540850.1:c.315A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3480
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser279Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

19-47700600-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700600
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700600
    reference: chr 19
allele count: 17
allele frequency: 1.400421774087255e-4
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.322A>G
  hgvsp: ENSP00000440955.1:p.Ile108Val
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.844A>G
  hgvsp: ENSP00000270225.6:p.Ile282Val
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11816A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6328A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.601A>G
  hgvsp: ENSP00000470741.1:p.Ile201Val
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*102A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*775A>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile282Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

19-47700611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700611
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700611
    reference: chr 19
allele count: 2247
allele frequency: 1.851546663590369e-2
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11805C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.855C>T
  hgvsp: ENST00000270225.7:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.612C>T
  hgvsp: ENST00000598840.1:c.612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*786C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.333C>T
  hgvsp: ENST00000540850.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6317C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*113C>T
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 9.75e1
  variant carriers: 1792
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 7.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 3.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2502
  bin: 6.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 6900
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 4923
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp285Asp
num of homozygotes: 46
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

19-47700618-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700618
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700618
    reference: chr 19
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11798C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.862C>G
  hgvsp: ENSP00000270225.6:p.Pro288Ala
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.619C>G
  hgvsp: ENSP00000470741.1:p.Pro207Ala
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*120C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6310C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.340C>G
  hgvsp: ENSP00000440955.1:p.Pro114Ala
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*793C>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5957
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  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: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro288Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-47700619-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700619
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700619
    reference: chr 19
allele count: 32
allele frequency: 2.637826431020839e-4
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.863C>G
  hgvsp: ENSP00000270225.6:p.Pro288Arg
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6309C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11797C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.620C>G
  hgvsp: ENSP00000470741.1:p.Pro207Arg
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*794C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.341C>G
  hgvsp: ENSP00000440955.1:p.Pro114Arg
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*121C>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31394
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro288Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

19-47700630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700630
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700630
    reference: chr 19
allele count: 10
allele frequency: 8.253685270473267e-5
allele num: 121158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*805G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6298G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.352G>A
  hgvsp: ENSP00000440955.1:p.Val118Ile
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*132G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.631G>A
  hgvsp: ENSP00000470741.1:p.Val211Ile
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11786G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.874G>A
  hgvsp: ENSP00000270225.6:p.Val292Ile
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4848
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val292Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

19-47700631-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700631
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700631
    reference: chr 19
allele count: 145
allele frequency: 1.196764608781776e-3
allele num: 121160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6297T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.632T>C
  hgvsp: ENSP00000470741.1:p.Val211Ala
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11785T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.875T>C
  hgvsp: ENSP00000270225.6:p.Val292Ala
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*806T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.353T>C
  hgvsp: ENSP00000440955.1:p.Val118Ala
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*133T>C
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 9.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val292Ala
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

19-47700649-TTATC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700649
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700645
    reference: chr 19
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.356+16_356+19delTATC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*809+16_*809+19delTATC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11766_734-11763delTATC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.635+16_635+19delTATC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*136+16_*136+19delTATC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.878+16_878+19delTATC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6278_734-6275delTATC
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7699
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
reference allele: TTATC
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

19-47700652-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700652
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700652
    reference: chr 19
allele count: 2
allele frequency: 1.656232402530723e-5
allele num: 120756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.635+18T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*136+18T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11764T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6276T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.878+18T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*809+18T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.356+18T>C
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-47700657-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700657
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700657
    reference: chr 19
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*809+23G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.356+23G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11759G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6271G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.878+23G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.635+23G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*136+23G>A
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum

19-47700657-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700657
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700657
    reference: chr 19
allele count: 587
allele frequency: 4.865958187575642e-3
allele num: 120634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11759G>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*809+23G>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*136+23G>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.635+23G>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6271G>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.878+23G>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.356+23G>T
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 7.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 8.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 8.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 5.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 9.75e1
  variant carriers: 293
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 6.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 6.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 3
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

19-47700665-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700665
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700665
    reference: chr 19
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.635+31T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.356+31T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6263T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*809+31T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11751T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*136+31T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.878+31T>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

19-47700672-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700672
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700672
    reference: chr 19
allele count: 1
allele frequency: 8.374227477515199e-6
allele num: 119414
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*136+38A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*809+38A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.356+38A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11744A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.878+38A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.635+38A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6256A>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3855
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

19-47700673-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700673
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700674
    reference: chr 19
allele count: 3
allele frequency: 2.51475321888412e-5
allele num: 119296
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*809+42dupA
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.356+42dupA
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.635+42dupA
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6252dupA
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11740dupA
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.878+42dupA
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*136+42dupA
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31468
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

19-47700674-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700674
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700674
    reference: chr 19
allele count: 1
allele frequency: 8.382651264942076e-6
allele num: 119294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.356+40A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6254A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.635+40A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*809+40A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11742A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.878+40A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*136+40A>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

19-47700677-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700677
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700676
    reference: chr 19
allele count: 4499
allele frequency: 3.745920202491174e-2
allele num: 120104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*136+46delT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.635+46delT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*809+46delT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.878+46delT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11736delT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.356+46delT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6248delT
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 5.25e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 1.75e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 7.25e1
  variant carriers: 422
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 360
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 2.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 2.25e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 5.75e1
  variant carriers: 340
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 1.25e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 6696
  bin: 4.75e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 6.75e1
  variant carriers: 449
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 4.25e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 8.75e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 3.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 9.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 7.75e1
  variant carriers: 368
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 307
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 6.25e1
  variant carriers: 380
genotype quality: GenotypeQuality
  all individuals: 2869
  bin: 9.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 7.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 7.25e1
  variant carriers: 6
num of homozygotes: 298
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: GT
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-47700678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700678
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700678
    reference: chr 19
allele count: 1
allele frequency: 8.955437741796819e-6
allele num: 111664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*809+44T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.635+44T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.878+44T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6250T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11738T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.356+44T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*136+44T>C
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP

19-47700684-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47700684
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47700684
    reference: chr 19
allele count: 8
allele frequency: 6.682593514542994e-5
allele num: 119714
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.878+50T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*809+50T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*136+50T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.356+50T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.635+50T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-6244T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-11732T>C
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3095
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-47706880-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706880
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706880
    reference: chr 19
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.636-48A>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5536A>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.357-48A>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*810-48A>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.879-48A>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-48A>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*137-48A>C
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6980
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-47706885-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706885
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706885
    reference: chr 19
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*810-43T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5531T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.879-43T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.636-43T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-43T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*137-43T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.357-43T>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/19-47706891-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706891
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706891
    reference: chr 19
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.357-37C>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5525C>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*137-37C>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-37C>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*810-37C>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.636-37C>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.879-37C>A
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum

19-47706899-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706899
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706898
    reference: chr 19
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5515delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.879-27delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*137-27delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.636-27delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-27delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*810-27delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.357-27delC
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31985
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: TC
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

19-47706900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706900
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706900
    reference: chr 19
allele count: 24
allele frequency: 1.977391820189171e-4
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5516C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.357-28C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*137-28C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-28C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.636-28C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.879-28C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*810-28C>T
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6186
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

19-47706902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706902
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706902
    reference: chr 19
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.636-26A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.357-26A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*810-26A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.879-26A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5514A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*137-26A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-26A>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

19-47706902-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706902
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706901
    reference: chr 19
allele count: 5
allele frequency: 4.119430529923544e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.636-22delT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*137-22delT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-22delT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*810-22delT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5510delT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.357-22delT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.879-22delT
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4356
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: AT
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum

19-47706903-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706903
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706903
    reference: chr 19
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.357-25T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5513T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-25T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*810-25T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*137-25T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.879-25T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.636-25T>C
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

19-47706904-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706904
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706904
    reference: chr 19
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5512T>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.636-24T>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.357-24T>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*137-24T>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.879-24T>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-24T>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*810-24T>A
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3977
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31971
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

19-47706910-T-TTGTGCACCACACTGGGGAGATTGGAGGTAGTTCTGTAGGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706910
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706951
    reference: chr 19
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: TTGTGCACCACACTGGGGAGATTGGAGGTAGTTCTGTAGGGA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31970
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7531
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

19-47706911-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706911
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706911
    reference: chr 19
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.879-17G>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*137-17G>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-17G>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5505G>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*810-17G>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.636-17G>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.357-17G>T
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7539
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

19-47706911-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706911
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706911
    reference: chr 19
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*810-17G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.636-17G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.879-17G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*137-17G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.357-17G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-17G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5505G>C
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

19-47706913-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706913
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706913
    reference: chr 19
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.879-15C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.734-15C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5503C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*810-15C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.357-15C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.636-15C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*137-15C>T
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

19-47706936-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706936
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706936
    reference: chr 19
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.887T>G
  hgvsp: ENSP00000270225.6:p.Phe296Cys
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5480T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.644T>G
  hgvsp: ENSP00000470741.1:p.Phe215Cys
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.742T>G
  hgvsp: ENSP00000440818.1:p.Ser248Ala
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*145T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*818T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.365T>G
  hgvsp: ENSP00000440955.1:p.Phe122Cys
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe296Cys
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

19-47706937-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706937
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706937
    reference: chr 19
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.743C>G
  hgvsp: ENSP00000440818.1:p.Ser248Cys
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.645C>G
  hgvsp: ENSP00000470741.1:p.Phe215Leu
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5479C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.366C>G
  hgvsp: ENSP00000440955.1:p.Phe122Leu
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.888C>G
  hgvsp: ENSP00000270225.6:p.Phe296Leu
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*819C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*146C>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe296Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

19-47706937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706937
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706937
    reference: chr 19
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.645C>T
  hgvsp: ENST00000598840.1:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*819C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5479C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.366C>T
  hgvsp: ENST00000540850.1:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.743C>T
  hgvsp: ENSP00000440818.1:p.Ser248Phe
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.888C>T
  hgvsp: ENST00000270225.7:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*146C>T
  variant of: http://identifiers.org/hgnc/30660
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31969
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser248Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-47706940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706940
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706940
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.891C>T
  hgvsp: ENST00000270225.7:c.891C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.369C>T
  hgvsp: ENST00000540850.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.746C>T
  hgvsp: ENSP00000440818.1:p.Pro249Leu
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.648C>T
  hgvsp: ENST00000598840.1:c.648C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*149C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*822C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5476C>T
  variant of: http://identifiers.org/hgnc/30660
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro249Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-47706941-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706941
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706941
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*150G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*823G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.747G>A
  hgvsp: ENST00000392776.3:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.649G>A
  hgvsp: ENSP00000470741.1:p.Glu217Lys
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.892G>A
  hgvsp: ENSP00000270225.6:p.Glu298Lys
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.370G>A
  hgvsp: ENSP00000440955.1:p.Glu124Lys
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5475G>A
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31969
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu298Lys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-47706950-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706950
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706950
    reference: chr 19
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5466C>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.379C>A
  hgvsp: ENSP00000440955.1:p.Pro127Thr
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.658C>A
  hgvsp: ENSP00000470741.1:p.Pro220Thr
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*832C>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.756C>A
  hgvsp: ENST00000392776.3:c.756C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*159C>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.901C>A
  hgvsp: ENSP00000270225.6:p.Pro301Thr
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro301Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-47706952-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706952
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706952
    reference: chr 19
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.903A>T
  hgvsp: ENST00000270225.7:c.903A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.660A>T
  hgvsp: ENST00000598840.1:c.660A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*161A>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*834A>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.381A>T
  hgvsp: ENST00000540850.1:c.381A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.758A>T
  hgvsp: ENSP00000440818.1:p.Gln253Leu
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5464A>T
  variant of: http://identifiers.org/hgnc/30660
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31967
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln253Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

19-47706977-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706977
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706977
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.928T>C
  hgvsp: ENST00000270225.7:c.928T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.783T>C
  hgvsp: ENST00000392776.3:c.783T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*186T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5439T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.406T>C
  hgvsp: ENST00000540850.1:c.406T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.685T>C
  hgvsp: ENST00000598840.1:c.685T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*859T>C
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31966
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu310Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS

19-47706982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706982
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706982
    reference: chr 19
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.411A>G
  hgvsp: ENST00000540850.1:c.411A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*864A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.788A>G
  hgvsp: ENSP00000440818.1:p.His263Arg
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.933A>G
  hgvsp: ENST00000270225.7:c.933A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.690A>G
  hgvsp: ENST00000598840.1:c.690A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*191A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5434A>G
  variant of: http://identifiers.org/hgnc/30660
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His263Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-47706984-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706984
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706984
    reference: chr 19
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.790A>G
  hgvsp: ENSP00000440818.1:p.Arg264Gly
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5432A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.692A>G
  hgvsp: ENSP00000470741.1:p.Gln231Arg
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*193A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*866A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.935A>G
  hgvsp: ENSP00000270225.6:p.Gln312Arg
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.413A>G
  hgvsp: ENSP00000440955.1:p.Gln138Arg
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln312Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

19-47706988-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47706988
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47706988
    reference: chr 19
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.939A>G
  hgvsp: ENST00000270225.7:c.939A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*870A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*197A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.696A>G
  hgvsp: ENST00000598840.1:c.696A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.417A>G
  hgvsp: ENST00000540850.1:c.417A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5428A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.794A>G
  hgvsp: ENSP00000440818.1:p.Lys265Arg
  variant of: http://identifiers.org/hgnc/30660
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys265Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-47707000-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47707000
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47707000
    reference: chr 19
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*206+3A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5416A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*2+3A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*879+3A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.948+3A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.705+3A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.426+3A>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31961
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.75e1
  variant carriers: 0
hgvs: c.948+3A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-47707002-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47707002
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47707002
    reference: chr 19
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.948+5A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*2+5A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*206+5A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.426+5A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5414A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*879+5A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.705+5A>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4356
  bin: 6.75e1
  variant carriers: 0
hgvs: c.948+5A>G
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

19-47707003-ACAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47707003
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47707000
    reference: chr 19
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*2+9_*2+11delTCA
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.705+9_705+11delTCA
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.948+9_948+11delTCA
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.426+9_426+11delTCA
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*206+9_*206+11delTCA
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*879+9_*879+11delTCA
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5410_734-5408delTCA
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8612
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: c.948+9_948+11delTCA
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: ACAT
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-47707005-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47707005
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47707005
    reference: chr 19
allele count: 4
allele frequency: 3.29549012176836e-5
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*879+8A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*2+8A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*206+8A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.426+8A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5411A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.948+8A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.705+8A>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: c.948+8A>G
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

19-47707019-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47707019
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47707019
    reference: chr 19
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*206+22G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.705+22G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.426+22G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*879+22G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5397G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.948+22G>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*2+22G>C
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4092
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

19-47707024-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47707024
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47707024
    reference: chr 19
allele count: 8
allele frequency: 6.592175088170342e-5
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*2+27T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.705+27T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5392T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.948+27T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*879+27T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*206+27T>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.426+27T>C
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31942
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3971
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/19-47707029-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47707029
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47707029
    reference: chr 19
allele count: 5
allele frequency: 4.120245236996506e-5
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.705+32A>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.948+32A>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.426+32A>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5387A>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*2+32A>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*879+32A>C
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*206+32A>C
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/19-47707030-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47707030
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47707029
    reference: chr 19
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.948+35delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.426+35delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*206+35delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.705+35delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5384delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*879+35delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*2+35delC
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: AC
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

19-47707031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47707031
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47707031
    reference: chr 19
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.426+34C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*206+34C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*879+34C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.948+34C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*2+34C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5385C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.705+34C>T
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

19-47707037-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47707037
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47707037
    reference: chr 19
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.426+40C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5379C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*879+40C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*2+40C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*206+40C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.948+40C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.705+40C>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31911
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6607
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

19-47707045-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47707045
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47707045
    reference: chr 19
allele count: 2
allele frequency: 1.649076517150396e-5
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*2+48A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.948+48A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*879+48A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*206+48A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.705+48A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-5371A>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.426+48A>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-47712368-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47712368
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47712368
    reference: chr 19
allele count: 1
allele frequency: 8.378156470450242e-6
allele num: 119358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*207-48T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*880-48T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-48T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.706-48T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.949-48T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*3-48T>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.427-48T>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17509
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD

19-47712387-C-CTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47712387
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47712390
    reference: chr 19
allele count: 1
allele frequency: 8.320990530712775e-6
allele num: 120178
alternate allele: CTTT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*880-28_*880-27insTTT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.949-28_949-27insTTT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.427-28_427-27insTTT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*207-28_*207-27insTTT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*3-28_*3-27insTTT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-28_734-27insTTT
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.706-28_706-27insTTT
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7961
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-47712389-AAACC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47712389
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47712385
    reference: chr 19
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-26_734-23delAACC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.949-26_949-23delAACC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.427-26_427-23delAACC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.706-26_706-23delAACC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*207-26_*207-23delAACC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*3-26_*3-23delAACC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*880-26_*880-23delAACC
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7989
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: AAACC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-47712401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47712401
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47712401
    reference: chr 19
allele count: 3
allele frequency: 2.482744922786633e-5
allele num: 120834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*207-15C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*3-15C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-15C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.427-15C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*880-15C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.706-15C>T
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.949-15C>T
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-47712409-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47712409
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47712408
    reference: chr 19
allele count: 2
allele frequency: 1.652237129072764e-5
allele num: 121048
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-3delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.706-3delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.949-3delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*3-3delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*880-3delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.427-3delC
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*207-3delC
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: c.949-3delC
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: TC
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

19-47712412-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47712412
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47712412
    reference: chr 19
allele count: 2
allele frequency: 1.650628063978344e-5
allele num: 121166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*3-4C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.427-4C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.949-4C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.734-4C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*207-4C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*880-4C>G
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.706-4C>G
  variant of: http://identifiers.org/hgnc/30660
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: c.949-4C>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

19-47712421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47712421
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 47712421
    reference: chr 19
allele count: 25
allele frequency: 2.060632037058406e-4
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000470741
  ensembl transcript: ENST00000598840
  gene symbol: SAE1
  hgvsc: ENST00000598840.1:c.711G>A
  hgvsp: ENST00000598840.1:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000473037
  ensembl transcript: ENST00000596995
  gene symbol: SAE1
  hgvsc: ENST00000596995.1:c.*885G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000416557
  ensembl transcript: ENST00000413379
  gene symbol: SAE1
  hgvsc: ENST00000413379.3:c.739G>A
  hgvsp: ENSP00000416557.2:p.Val247Ile
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440955
  ensembl transcript: ENST00000540850
  gene symbol: SAE1
  hgvsc: ENST00000540850.1:c.432G>A
  hgvsp: ENST00000540850.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000398818
  ensembl transcript: ENST00000414294
  gene symbol: SAE1
  hgvsc: ENST00000414294.2:c.*212G>A
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000270225
  ensembl transcript: ENST00000270225
  gene symbol: SAE1
  hgvsc: ENST00000270225.7:c.954G>A
  hgvsp: ENST00000270225.7:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30660
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000142230
  ensembl protein: ENSP00000440818
  ensembl transcript: ENST00000392776
  gene symbol: SAE1
  hgvsc: ENST00000392776.3:c.*8G>A
  variant of: http://identifiers.org/hgnc/30660
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val247Ile
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9438
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4725
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30806
bin: 9.75e1
variant carriers: 29

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 28
allele frequency: 3.235498035590478e-3
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

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

DP
type: SiteQuality
SIO_000300: 3.029925e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.654e0

MQ
type: SiteQuality
SIO_000300: 5.894e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
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SIO_000300: 4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

QD
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SIO_000300: 1.264e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
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)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
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Latino
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allele frequency: 0.0e0
allele num: 11578
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East Asian
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allele count: 6
allele frequency: 6.933210076265311e-4
allele num: 8654
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African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.96e0

InbreedingCoeff
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QD
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DP
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

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

European (Finnish)
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allele count: 5
allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

African
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allele count: 9
allele frequency: 8.648856428983279e-4
allele num: 10406
num of homozygotes: 0

Latino
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allele frequency: 9.500777336327518e-4
allele num: 11578
num of homozygotes: 0

South Asian
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allele count: 362
allele frequency: 2.192610539067232e-2
allele num: 16510
num of homozygotes: 4

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 221
allele frequency: 3.311853738948e-3
allele num: 66730
num of homozygotes: 2

Other
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allele count: 6
allele frequency: 6.607929515418502e-3
allele num: 908
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.12e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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QD
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SIO_000300: 1.375e1

DP
type: SiteQuality
SIO_000300: 3.073306e6

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 908
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

ReadPosRankSum
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QD
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BaseQRankSum
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SIO_000300: -1.406e0

FS
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SIO_000300: 3.226e0

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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ClippingRankSum
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DP
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SIO_000300: 3.033429e6

MQ
type: SiteQuality
SIO_000300: 5.926e1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

African
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InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

DP
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SIO_000300: 3.033429e6

FS
type: SiteQuality
SIO_000300: 3.226e0

VQSLOD
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.406e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

East Asian
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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

Other
type: Population
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allele frequency: 0.0e0
allele num: 908
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

FS
type: SiteQuality
SIO_000300: 1.083e0

VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.881e1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: 1.74e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.033333e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 80
allele frequency: 4.845548152634767e-3
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 17
allele frequency: 2.547274416374479e-4
allele num: 66738
num of homozygotes: 1

Other
type: Population
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allele frequency: 2.202643171806168e-3
allele num: 908
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ClippingRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.913e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.11e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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East Asian
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South Asian
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European (Finnish)
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MQ
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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FS
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DP
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QD
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BaseQRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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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African
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South Asian
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European (Finnish)
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East Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.16e0

InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
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European (Finnish)
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 9461
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 10406
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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.034506e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.68e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-1

MQ
type: SiteQuality
SIO_000300: 5.839e1

FS
type: SiteQuality
SIO_000300: 8.744e0

VQSLOD
type: SiteQuality
SIO_000300: -1.579e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.574e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.79e-1

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30886
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2459
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.034434e6

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

FS
type: SiteQuality
SIO_000300: 1.267e0

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.06e0

QD
type: SiteQuality
SIO_000300: 1.645e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

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

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.636e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

VQSLOD
type: SiteQuality
SIO_000300: -6.72e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.94e-1

QD
type: SiteQuality
SIO_000300: 1.503e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.034438e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.161e0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3174
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 17

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

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 16
allele frequency: 1.537574476263694e-3
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

DP
type: SiteQuality
SIO_000300: 3.036303e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

QD
type: SiteQuality
SIO_000300: 1.405e1

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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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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variant carriers: 0

GenotypeQuality
all individuals: 2371
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variant carriers: 0

GenotypeQuality
all individuals: 31885
bin: 9.75e1
variant carriers: 2201

Latino
type: Population
allele count: 79
allele frequency: 6.823285541544308e-3
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 44
allele frequency: 4.228329809725159e-3
allele num: 10406
num of homozygotes: 1

South Asian
type: Population
allele count: 276
allele frequency: 1.673741661613099e-2
allele num: 16490
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 1733
allele frequency: 2.597811422575326e-2
allele num: 66710
num of homozygotes: 36

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

Other
type: Population
allele count: 20
allele frequency: 2.207505518763797e-2
allele num: 906
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 95
allele frequency: 1.436347142425159e-2
allele num: 6614
num of homozygotes: 2

QD
type: SiteQuality
SIO_000300: 1.331e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 5.57e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.89e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.874e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.244297e6

GenotypeQuality
all individuals: 109
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31384
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 4593
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variant carriers: 0

GenotypeQuality
all individuals: 3154
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

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

GenotypeQuality
all individuals: 2408
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9229
bin: 6.25e1
variant carriers: 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: 16470
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: 10406
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 3.062459e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.096e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 9.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.544e1

GenotypeQuality
all individuals: 2408
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 9
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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: 66686
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: 31
allele frequency: 2.979050547760907e-3
allele num: 10406
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.065319e6

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

QD
type: SiteQuality
SIO_000300: 1.337e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.251e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 10

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8848
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.11321677466683e-4
allele num: 16358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 10406
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.452e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 3.059301e6

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 144

GenotypeQuality
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GenotypeQuality
all individuals: 3144
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
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African
type: Population
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allele num: 10406
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East Asian
type: Population
allele count: 144
allele frequency: 1.663970418303675e-2
allele num: 8654
num of homozygotes: 1

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

DP
type: SiteQuality
SIO_000300: 3.072182e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 54
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 31413
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GenotypeQuality
all individuals: 3146
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16114
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: 11574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.199e0

MQ
type: SiteQuality
SIO_000300: 5.514e1

VQSLOD
type: SiteQuality
SIO_000300: 7.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 1.5e1

DP
type: SiteQuality
SIO_000300: 3.045908e6

MQRankSum
type: SiteQuality
SIO_000300: -3.013e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 260
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31413
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3145
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.241464928615767e-4
allele num: 16110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
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: 10400
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.048e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

MQ
type: SiteQuality
SIO_000300: 5.995e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

DP
type: SiteQuality
SIO_000300: 3.045491e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

QD
type: SiteQuality
SIO_000300: 1.249e1

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

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2843
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31633
bin: 9.75e1
variant carriers: 1

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: 16020
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.039e0

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

QD
type: SiteQuality
SIO_000300: 1.346e1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

DP
type: SiteQuality
SIO_000300: 3.065758e6

FS
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4115
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 479
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31633
bin: 9.75e1
variant carriers: 584

GenotypeQuality
all individuals: 3340
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3325
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2843
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 25
allele frequency: 3.779860901118839e-3
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 46
allele frequency: 3.974425436322792e-3
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 470
allele frequency: 7.070433552968078e-3
allele num: 66474
num of homozygotes: 2

African
type: Population
allele count: 6
allele frequency: 5.770340450086555e-4
allele num: 10398
num of homozygotes: 0

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

Other
type: Population
allele count: 6
allele frequency: 6.651884700665188e-3
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 34
allele frequency: 2.122347066167291e-3
allele num: 16020
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.039e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

FS
type: SiteQuality
SIO_000300: 7.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

QD
type: SiteQuality
SIO_000300: 1.346e1

DP
type: SiteQuality
SIO_000300: 3.065758e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 2840
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31482
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4032
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3348
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 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: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15864
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 3.203e0

DP
type: SiteQuality
SIO_000300: 3.031807e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: 1.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeQuality
all individuals: 917
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31465
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2394
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
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: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.035056e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.156e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

MQ
type: SiteQuality
SIO_000300: 5.88e1

FS
type: SiteQuality
SIO_000300: 2.339e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.468e0

QD
type: SiteQuality
SIO_000300: 1.3e1

GenotypeQuality
all individuals: 85
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3301
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2393
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5228
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.887391722810395e-4
allele num: 10390
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: 15320
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.03489e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

MQ
type: SiteQuality
SIO_000300: 6.042e1

FS
type: SiteQuality
SIO_000300: 1.063e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

QD
type: SiteQuality
SIO_000300: 1.273e1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

GenotypeQuality
all individuals: 170
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5265
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3338
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31466
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
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: 1
allele frequency: 6.526563111865292e-5
allele num: 15322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.034827e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.359e1

MQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.299e0

VQSLOD
type: SiteQuality
SIO_000300: -1.076e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 1.73e0

GenotypeQuality
all individuals: 3465
bin: 6.75e1
variant carriers: 6

GenotypeQuality
all individuals: 895
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 733
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 34523
bin: 9.75e1
variant carriers: 4146

GenotypeQuality
all individuals: 3042
bin: 8.25e1
variant carriers: 9

African
type: Population
allele count: 51
allele frequency: 4.908565928777671e-3
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 1130
allele frequency: 7.214915081087983e-2
allele num: 15662
num of homozygotes: 49

European (Finnish)
type: Population
allele count: 74
allele frequency: 1.118838826731176e-2
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 307
allele frequency: 4.627396599541782e-3
allele num: 66344
num of homozygotes: 0

East Asian
type: Population
allele count: 1664
allele frequency: 1.928604543347242e-1
allele num: 8628
num of homozygotes: 166

Latino
type: Population
allele count: 1256
allele frequency: 1.085378499827169e-1
allele num: 11572
num of homozygotes: 82

Other
type: Population
allele count: 17
allele frequency: 1.901565995525727e-2
allele num: 894
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 6.024e1

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.098783e6

QD
type: SiteQuality
SIO_000300: 1.565e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.69e-1

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2977
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30376
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 319
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3454
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2861
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5634
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.426110203475419e-5
allele num: 13466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.044e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

DP
type: SiteQuality
SIO_000300: 2.822632e6

GenotypeQuality
all individuals: 2967
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33704
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2262
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3435
bin: 6.75e1
variant carriers: 0

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

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

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

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

African
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East Asian
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Latino
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VQSLOD
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ReadPosRankSum
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DP
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QD
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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Other
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Latino
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African
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European (Non-Finnish)
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QD
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VQSLOD
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ClippingRankSum
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DP
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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Latino
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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QD
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FS
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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MQ
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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MQ
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ClippingRankSum
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SIO_000300: 5.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

FS
type: SiteQuality
SIO_000300: 1.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e0

DP
type: SiteQuality
SIO_000300: 3.038907e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.798e0

QD
type: SiteQuality
SIO_000300: 1.117e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2320
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 3.038876e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

MQRankSum
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SIO_000300: -5.96e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.16e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

MQRankSum
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SIO_000300: 2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.321e1

DP
type: SiteQuality
SIO_000300: 3.038526e6

FS
type: SiteQuality
SIO_000300: 6.481e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 6.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 5.819e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.814e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.03854e6

QD
type: SiteQuality
SIO_000300: 1.241e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 3.038435e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

QD
type: SiteQuality
SIO_000300: 1.434e1

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

FS
type: SiteQuality
SIO_000300: 4.972e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.377e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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variant carriers: 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: 66732
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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: 908
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

FS
type: SiteQuality
SIO_000300: 8.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e0

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.03829e6

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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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
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: 10402
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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.101e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.316e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 3.037873e6

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10402
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.037705e6

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.41e0

VQSLOD
type: SiteQuality
SIO_000300: -1.241e-1

QD
type: SiteQuality
SIO_000300: 1.651e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 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: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
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South Asian
type: Population
allele count: 0
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allele num: 16512
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African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

Other
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allele num: 908
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MQRankSum
type: SiteQuality
SIO_000300: -2.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

FS
type: SiteQuality
SIO_000300: 1.023e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQ
type: SiteQuality
SIO_000300: 5.613e1

DP
type: SiteQuality
SIO_000300: 3.037643e6

QD
type: SiteQuality
SIO_000300: 1.338e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
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variant carriers: 4

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.037501e6

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
allele num: 10402
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155535012710885e-4
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num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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MQ
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.035534e6

MQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.73e-1

BaseQRankSum
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SIO_000300: 3.88e0

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

South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
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Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Finnish)
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allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.04e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
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FS
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SIO_000300: 1.879e0

MQ
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ClippingRankSum
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SIO_000300: -1.9e-1

QD
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BaseQRankSum
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InbreedingCoeff
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
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East Asian
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allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10400
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
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SIO_000300: 4.28e0

QD
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SIO_000300: 1.633e1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e0

DP
type: SiteQuality
SIO_000300: 3.030642e6

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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African
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allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.093e1

ClippingRankSum
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SIO_000300: 8.23e-1

InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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SIO_000300: 8.139999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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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: 16498
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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Other
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.02882e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 6.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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South Asian
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allele frequency: 6.062810719049351e-5
allele num: 16494
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.62e-1

DP
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

FS
type: SiteQuality
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MQRankSum
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SIO_000300: -2.321e0

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

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

East Asian
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allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Finnish)
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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: 10394
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11562
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Other
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

InbreedingCoeff
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VQSLOD
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FS
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QD
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MQ
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SIO_000300: 6.0e1

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
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allele num: 15550
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MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

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

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

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6602
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South Asian
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Other
type: Population
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

Latino
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allele num: 11552
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.744e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.264e1

DP
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FS
type: SiteQuality
SIO_000300: 3.691e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10368
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.507295309296997e-5
allele num: 66344
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -1.426e0

InbreedingCoeff
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VQSLOD
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FS
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QD
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DP
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SIO_000300: 1.60364e6

MQ
type: SiteQuality
SIO_000300: 5.561e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.099e0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8100
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.509108398965911e-5
allele num: 66532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

DP
type: SiteQuality
SIO_000300: 1.616427e6

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.292e0

FS
type: SiteQuality
SIO_000300: 7.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

GenotypeQuality
all individuals: 1713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 81
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45380
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8156
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 2
allele frequency: 3.002912825440678e-5
allele num: 66602
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.620869e6

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.72e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

MQ
type: SiteQuality
SIO_000300: 6.076e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.095e0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1896
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1846
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8177
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45511
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 2
allele frequency: 3.001380635092142e-5
allele num: 66636
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.623074e6

VQSLOD
type: SiteQuality
SIO_000300: 8.96e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e0