3-121126092-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126092
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126092
    reference: chr 3
allele count: 1
allele frequency: 9.168087720263307e-6
allele num: 109074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2491A>G
  hgvsp: ENSP00000420167.1:p.Thr831Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2590A>G
  hgvsp: ENSP00000419627.1:p.Thr864Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2590A>G
  hgvsp: ENSP00000420019.1:p.Thr864Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2662A>G
  hgvsp: ENSP00000273666.6:p.Thr888Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2584A>G
  hgvsp: ENSP00000420287.1:p.Thr862Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2662A>G
  hgvsp: ENSP00000420666.1:p.Thr888Ala
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr888Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-121126094-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126094
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126094
    reference: chr 3
allele count: 10
allele frequency: 9.145281949042489e-5
allele num: 109346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2493A>G
  hgvsp: ENST00000471262.1:c.2493A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2664A>G
  hgvsp: ENST00000273666.6:c.2664A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2592A>G
  hgvsp: ENST00000472879.1:c.2592A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2592A>G
  hgvsp: ENST00000471454.1:c.2592A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2586A>G
  hgvsp: ENST00000497029.1:c.2586A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2664A>G
  hgvsp: ENST00000492541.1:c.2664A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29535
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr888Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-121126098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126098
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126098
    reference: chr 3
allele count: 1
allele frequency: 9.122922254456548e-6
allele num: 109614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2668C>T
  hgvsp: ENSP00000420666.1:p.Leu890Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2596C>T
  hgvsp: ENSP00000419627.1:p.Leu866Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2497C>T
  hgvsp: ENSP00000420167.1:p.Leu833Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2668C>T
  hgvsp: ENSP00000273666.6:p.Leu890Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2596C>T
  hgvsp: ENSP00000420019.1:p.Leu866Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2590C>T
  hgvsp: ENSP00000420287.1:p.Leu864Phe
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu890Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

3-121126104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126104
    reference: chr 3
allele count: 1
allele frequency: 9.086448470750722e-6
allele num: 110054
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2674T>C
  hgvsp: ENST00000273666.6:c.2674T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2596T>C
  hgvsp: ENST00000497029.1:c.2596T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2503T>C
  hgvsp: ENST00000471262.1:c.2503T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2674T>C
  hgvsp: ENST00000492541.1:c.2674T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2602T>C
  hgvsp: ENST00000471454.1:c.2602T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2602T>C
  hgvsp: ENST00000472879.1:c.2602T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu892Leu
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: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP

3-121126115-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126115
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126115
    reference: chr 3
allele count: 12
allele frequency: 1.081314878892734e-4
allele num: 110976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2613T>C
  hgvsp: ENST00000472879.1:c.2613T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2685T>C
  hgvsp: ENST00000492541.1:c.2685T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2514T>C
  hgvsp: ENST00000471262.1:c.2514T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2613T>C
  hgvsp: ENST00000471454.1:c.2613T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2685T>C
  hgvsp: ENST00000273666.6:c.2685T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2607T>C
  hgvsp: ENST00000497029.1:c.2607T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13890
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala895Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

3-121126131-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126131
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126131
    reference: chr 3
allele count: 3
allele frequency: 2.651769614255914e-5
allele num: 113132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2701T>G
  hgvsp: ENSP00000420666.1:p.Cys901Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2530T>G
  hgvsp: ENSP00000420167.1:p.Cys844Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2629T>G
  hgvsp: ENSP00000419627.1:p.Cys877Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2623T>G
  hgvsp: ENSP00000420287.1:p.Cys875Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2701T>G
  hgvsp: ENSP00000273666.6:p.Cys901Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2629T>G
  hgvsp: ENSP00000420019.1:p.Cys877Gly
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14531
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29708
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7130
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys901Gly
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

3-121126133-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126133
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126133
    reference: chr 3
allele count: 1
allele frequency: 8.816942636971204e-6
allele num: 113418
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2703T>C
  hgvsp: ENST00000273666.6:c.2703T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2631T>C
  hgvsp: ENST00000472879.1:c.2631T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2631T>C
  hgvsp: ENST00000471454.1:c.2631T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2625T>C
  hgvsp: ENST00000497029.1:c.2625T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2532T>C
  hgvsp: ENST00000471262.1:c.2532T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2703T>C
  hgvsp: ENST00000492541.1:c.2703T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys901Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

3-121126141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126141
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126141
    reference: chr 3
allele count: 3
allele frequency: 2.608650284342881e-5
allele num: 115002
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2711G>A
  hgvsp: ENSP00000273666.6:p.Arg904Gln
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2639G>A
  hgvsp: ENSP00000419627.1:p.Arg880Gln
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2540G>A
  hgvsp: ENSP00000420167.1:p.Arg847Gln
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2639G>A
  hgvsp: ENSP00000420019.1:p.Arg880Gln
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2633G>A
  hgvsp: ENSP00000420287.1:p.Arg878Gln
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2711G>A
  hgvsp: ENSP00000420666.1:p.Arg904Gln
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29836
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg904Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

3-121126147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126147
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126147
    reference: chr 3
allele count: 1
allele frequency: 8.602002546192754e-6
allele num: 116252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2546G>A
  hgvsp: ENSP00000420167.1:p.Gly849Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2717G>A
  hgvsp: ENSP00000420666.1:p.Gly906Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2639G>A
  hgvsp: ENSP00000420287.1:p.Gly880Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2645G>A
  hgvsp: ENSP00000420019.1:p.Gly882Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2645G>A
  hgvsp: ENSP00000419627.1:p.Gly882Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2717G>A
  hgvsp: ENSP00000273666.6:p.Gly906Asp
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44971
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly906Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

3-121126161-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126161
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126161
    reference: chr 3
allele count: 1
allele frequency: 8.454228805248384e-6
allele num: 118284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2659C>T
  hgvsp: ENSP00000419627.1:p.Pro887Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2560C>T
  hgvsp: ENSP00000420167.1:p.Pro854Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2653C>T
  hgvsp: ENSP00000420287.1:p.Pro885Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2731C>T
  hgvsp: ENSP00000420666.1:p.Pro911Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2731C>T
  hgvsp: ENSP00000273666.6:p.Pro911Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2659C>T
  hgvsp: ENSP00000420019.1:p.Pro887Ser
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro911Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

3-121126163-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126163
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126163
    reference: chr 3
allele count: 6
allele frequency: 5.059363194819212e-5
allele num: 118592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2661G>A
  hgvsp: ENST00000471454.1:c.2661G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2562G>A
  hgvsp: ENST00000471262.1:c.2562G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2733G>A
  hgvsp: ENST00000492541.1:c.2733G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2661G>A
  hgvsp: ENST00000472879.1:c.2661G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2655G>A
  hgvsp: ENST00000497029.1:c.2655G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2733G>A
  hgvsp: ENST00000273666.6:c.2733G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro911Pro
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-121126169-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126169
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126169
    reference: chr 3
allele count: 1
allele frequency: 8.389824820457749e-6
allele num: 119192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2739T>C
  hgvsp: ENST00000492541.1:c.2739T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2568T>C
  hgvsp: ENST00000471262.1:c.2568T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2667T>C
  hgvsp: ENST00000471454.1:c.2667T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2739T>C
  hgvsp: ENST00000273666.6:c.2739T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2667T>C
  hgvsp: ENST00000472879.1:c.2667T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2661T>C
  hgvsp: ENST00000497029.1:c.2661T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr913Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS

3-121126181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126181
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126181
    reference: chr 3
allele count: 1
allele frequency: 8.352265134304423e-6
allele num: 119728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2580G>A
  hgvsp: ENST00000471262.1:c.2580G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2679G>A
  hgvsp: ENST00000472879.1:c.2679G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2751G>A
  hgvsp: ENST00000492541.1:c.2751G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2751G>A
  hgvsp: ENST00000273666.6:c.2751G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2673G>A
  hgvsp: ENST00000497029.1:c.2673G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2679G>A
  hgvsp: ENST00000471454.1:c.2679G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg917Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

3-121126184-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126184
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126184
    reference: chr 3
allele count: 1
allele frequency: 8.345434212942099e-6
allele num: 119826
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2754T>A
  hgvsp: ENSP00000273666.6:p.Asp918Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2682T>A
  hgvsp: ENSP00000419627.1:p.Asp894Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2682T>A
  hgvsp: ENSP00000420019.1:p.Asp894Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2754T>A
  hgvsp: ENSP00000420666.1:p.Asp918Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2583T>A
  hgvsp: ENSP00000420167.1:p.Asp861Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2676T>A
  hgvsp: ENSP00000420287.1:p.Asp892Glu
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp918Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

3-121126185-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126185
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126185
    reference: chr 3
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2677C>G
  hgvsp: ENSP00000420287.1:p.Pro893Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2683C>G
  hgvsp: ENSP00000419627.1:p.Pro895Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2755C>G
  hgvsp: ENSP00000273666.6:p.Pro919Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2584C>G
  hgvsp: ENSP00000420167.1:p.Pro862Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2755C>G
  hgvsp: ENSP00000420666.1:p.Pro919Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2683C>G
  hgvsp: ENSP00000420019.1:p.Pro895Ala
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro919Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ

3-121126191-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126191
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126191
    reference: chr 3
allele count: 1
allele frequency: 8.338336335134414e-6
allele num: 119928
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2590A>G
  hgvsp: ENSP00000420167.1:p.Asn864Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2683A>G
  hgvsp: ENSP00000420287.1:p.Asn895Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2689A>G
  hgvsp: ENSP00000420019.1:p.Asn897Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2761A>G
  hgvsp: ENSP00000420666.1:p.Asn921Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2761A>G
  hgvsp: ENSP00000273666.6:p.Asn921Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2689A>G
  hgvsp: ENSP00000419627.1:p.Asn897Asp
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7262
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn921Asp
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

3-121126195-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126195
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126195
    reference: chr 3
allele count: 2
allele frequency: 1.66688891852247e-5
allele num: 119984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2765T>C
  hgvsp: ENSP00000420666.1:p.Ile922Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2765T>C
  hgvsp: ENSP00000273666.6:p.Ile922Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2594T>C
  hgvsp: ENSP00000420167.1:p.Ile865Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2693T>C
  hgvsp: ENSP00000420019.1:p.Ile898Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2693T>C
  hgvsp: ENSP00000419627.1:p.Ile898Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2687T>C
  hgvsp: ENSP00000420287.1:p.Ile896Thr
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile922Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-121126198-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126198
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126198
    reference: chr 3
allele count: 1
allele frequency: 8.332083520805212e-6
allele num: 120018
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2768A>G
  hgvsp: ENSP00000273666.6:p.Asp923Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2696A>G
  hgvsp: ENSP00000420019.1:p.Asp899Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2696A>G
  hgvsp: ENSP00000419627.1:p.Asp899Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2768A>G
  hgvsp: ENSP00000420666.1:p.Asp923Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2597A>G
  hgvsp: ENSP00000420167.1:p.Asp866Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2690A>G
  hgvsp: ENSP00000420287.1:p.Asp897Gly
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp923Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

3-121126202-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126202
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126202
    reference: chr 3
allele count: 5
allele frequency: 4.16472312920637e-5
allele num: 120056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2772A>G
  hgvsp: ENST00000492541.1:c.2772A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2700A>G
  hgvsp: ENST00000472879.1:c.2700A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2772A>G
  hgvsp: ENST00000273666.6:c.2772A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2694A>G
  hgvsp: ENST00000497029.1:c.2694A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2601A>G
  hgvsp: ENST00000471262.1:c.2601A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2700A>G
  hgvsp: ENST00000471454.1:c.2700A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31095
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu924Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

3-121126210-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126210
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126210
    reference: chr 3
allele count: 1
allele frequency: 8.325562808045825e-6
allele num: 120112
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2702A>T
  hgvsp: ENSP00000420287.1:p.Lys901Ile
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2609A>T
  hgvsp: ENSP00000420167.1:p.Lys870Ile
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2708A>T
  hgvsp: ENSP00000419627.1:p.Lys903Ile
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2780A>T
  hgvsp: ENSP00000273666.6:p.Lys927Ile
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2780A>T
  hgvsp: ENSP00000420666.1:p.Lys927Ile
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2708A>T
  hgvsp: ENSP00000420019.1:p.Lys903Ile
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys927Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-121126215-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126215
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126215
    reference: chr 3
allele count: 3
allele frequency: 2.497253021676156e-5
allele num: 120132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2713T>C
  hgvsp: ENSP00000420019.1:p.Trp905Arg
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2785T>C
  hgvsp: ENSP00000420666.1:p.Trp929Arg
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2614T>C
  hgvsp: ENSP00000420167.1:p.Trp872Arg
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2785T>C
  hgvsp: ENSP00000273666.6:p.Trp929Arg
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2713T>C
  hgvsp: ENSP00000419627.1:p.Trp905Arg
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2707T>C
  hgvsp: ENSP00000420287.1:p.Trp903Arg
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Trp929Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

3-121126218-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126218
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126218
    reference: chr 3
allele count: 2
allele frequency: 1.664585934248856e-5
allele num: 120150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2716A>G
  hgvsp: ENSP00000420019.1:p.Arg906Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2788A>G
  hgvsp: ENSP00000273666.6:p.Arg930Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2716A>G
  hgvsp: ENSP00000419627.1:p.Arg906Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2617A>G
  hgvsp: ENSP00000420167.1:p.Arg873Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2788A>G
  hgvsp: ENSP00000420666.1:p.Arg930Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2710A>G
  hgvsp: ENSP00000420287.1:p.Arg904Gly
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg930Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum

3-121126222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126222
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126222
    reference: chr 3
allele count: 1
allele frequency: 8.321682977165302e-6
allele num: 120168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2621G>A
  hgvsp: ENSP00000420167.1:p.Arg874Lys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2720G>A
  hgvsp: ENSP00000419627.1:p.Arg907Lys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2792G>A
  hgvsp: ENSP00000273666.6:p.Arg931Lys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2720G>A
  hgvsp: ENSP00000420019.1:p.Arg907Lys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2714G>A
  hgvsp: ENSP00000420287.1:p.Arg905Lys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2792G>A
  hgvsp: ENSP00000420666.1:p.Arg931Lys
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg931Lys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

3-121126230-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126230
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126230
    reference: chr 3
allele count: 1
allele frequency: 8.320990530712775e-6
allele num: 120178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2629G>T
  hgvsp: ENSP00000420167.1:p.Val877Leu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2728G>T
  hgvsp: ENSP00000419627.1:p.Val910Leu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2800G>T
  hgvsp: ENSP00000420666.1:p.Val934Leu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2728G>T
  hgvsp: ENSP00000420019.1:p.Val910Leu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2722G>T
  hgvsp: ENSP00000420287.1:p.Val908Leu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2800G>T
  hgvsp: ENSP00000273666.6:p.Val934Leu
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val934Leu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum

3-121126231-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126231
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126231
    reference: chr 3
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2801T>C
  hgvsp: ENSP00000420666.1:p.Val934Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2729T>C
  hgvsp: ENSP00000419627.1:p.Val910Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2801T>C
  hgvsp: ENSP00000273666.6:p.Val934Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2630T>C
  hgvsp: ENSP00000420167.1:p.Val877Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2723T>C
  hgvsp: ENSP00000420287.1:p.Val908Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2729T>C
  hgvsp: ENSP00000420019.1:p.Val910Ala
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val934Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/3-121126236-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126236
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126236
    reference: chr 3
allele count: 2
allele frequency: 1.663782776520698e-5
allele num: 120208
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2806A>C
  hgvsp: ENSP00000273666.6:p.Asn936His
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2635A>C
  hgvsp: ENSP00000420167.1:p.Asn879His
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2734A>C
  hgvsp: ENSP00000419627.1:p.Asn912His
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2734A>C
  hgvsp: ENSP00000420019.1:p.Asn912His
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2806A>C
  hgvsp: ENSP00000420666.1:p.Asn936His
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2728A>C
  hgvsp: ENSP00000420287.1:p.Asn910His
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn936His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

3-121126246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126246
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126246
    reference: chr 3
allele count: 358
allele frequency: 2.977774820335374e-3
allele num: 120224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2738C>T
  hgvsp: ENSP00000420287.1:p.Ser913Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2816C>T
  hgvsp: ENSP00000273666.6:p.Ser939Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2744C>T
  hgvsp: ENSP00000420019.1:p.Ser915Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2645C>T
  hgvsp: ENSP00000420167.1:p.Ser882Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2744C>T
  hgvsp: ENSP00000419627.1:p.Ser915Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2816C>T
  hgvsp: ENSP00000420666.1:p.Ser939Phe
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18044
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 8795
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31107
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48354
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7214
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser939Phe
num of homozygotes: 6
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

3-121126251-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126251
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126250
    reference: chr 3
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2746delC
  hgvsp: ENSP00000420287.1:p.Gln916LysfsTer3
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2752delC
  hgvsp: ENSP00000420019.1:p.Gln918LysfsTer3
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2824delC
  hgvsp: ENSP00000420666.1:p.Gln942LysfsTer3
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2824delC
  hgvsp: ENSP00000273666.6:p.Gln942LysfsTer3
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2653delC
  hgvsp: ENSP00000420167.1:p.Gln885LysfsTer3
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2752delC
  hgvsp: ENSP00000419627.1:p.Gln918LysfsTer3
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln942LysfsTer3
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: TC
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-121126259-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126259
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126259
    reference: chr 3
allele count: 1
allele frequency: 8.315593400745077e-6
allele num: 120256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2757A>T
  hgvsp: ENSP00000419627.1:p.Glu919Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2829A>T
  hgvsp: ENSP00000273666.6:p.Glu943Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2751A>T
  hgvsp: ENSP00000420287.1:p.Glu917Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2658A>T
  hgvsp: ENSP00000420167.1:p.Glu886Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2829A>T
  hgvsp: ENSP00000420666.1:p.Glu943Asp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2757A>T
  hgvsp: ENSP00000420019.1:p.Glu919Asp
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu943Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-121126264-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126264
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126264
    reference: chr 3
allele count: 2
allele frequency: 1.662952738883161e-5
allele num: 120268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2762G>A
  hgvsp: ENSP00000419627.1:p.Gly921Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2762G>A
  hgvsp: ENSP00000420019.1:p.Gly921Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2663G>A
  hgvsp: ENSP00000420167.1:p.Gly888Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2834G>A
  hgvsp: ENSP00000420666.1:p.Gly945Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2834G>A
  hgvsp: ENSP00000273666.6:p.Gly945Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2756G>A
  hgvsp: ENSP00000420287.1:p.Gly919Glu
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly945Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-121126273-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126273
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126273
    reference: chr 3
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2672A>G
  hgvsp: ENSP00000420167.1:p.Gln891Arg
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2771A>G
  hgvsp: ENSP00000420019.1:p.Gln924Arg
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2843A>G
  hgvsp: ENSP00000273666.6:p.Gln948Arg
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2843A>G
  hgvsp: ENSP00000420666.1:p.Gln948Arg
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2771A>G
  hgvsp: ENSP00000419627.1:p.Gln924Arg
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2765A>G
  hgvsp: ENSP00000420287.1:p.Gln922Arg
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln948Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-121126276-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126276
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126276
    reference: chr 3
allele count: 14
allele frequency: 1.163679888286731e-4
allele num: 120308
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2774A>G
  hgvsp: ENSP00000419627.1:p.Tyr925Cys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2768A>G
  hgvsp: ENSP00000420287.1:p.Tyr923Cys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2846A>G
  hgvsp: ENSP00000273666.6:p.Tyr949Cys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2675A>G
  hgvsp: ENSP00000420167.1:p.Tyr892Cys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2846A>G
  hgvsp: ENSP00000420666.1:p.Tyr949Cys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2774A>G
  hgvsp: ENSP00000420019.1:p.Tyr925Cys
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr949Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-121126298-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126298
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126298
    reference: chr 3
allele count: 1
allele frequency: 8.309650828472188e-6
allele num: 120342
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2868A>G
  hgvsp: ENST00000273666.6:c.2868A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2868A>G
  hgvsp: ENST00000492541.1:c.2868A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2790A>G
  hgvsp: ENST00000497029.1:c.2790A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2697A>G
  hgvsp: ENST00000471262.1:c.2697A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2796A>G
  hgvsp: ENST00000471454.1:c.2796A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2796A>G
  hgvsp: ENST00000472879.1:c.2796A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48797
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys956Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

3-121126323-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126323
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126323
    reference: chr 3
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2815T>C
  hgvsp: ENSP00000420287.1:p.Ser939Pro
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2893T>C
  hgvsp: ENSP00000273666.6:p.Ser965Pro
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2722T>C
  hgvsp: ENSP00000420167.1:p.Ser908Pro
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2821T>C
  hgvsp: ENSP00000420019.1:p.Ser941Pro
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2893T>C
  hgvsp: ENSP00000420666.1:p.Ser965Pro
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2821T>C
  hgvsp: ENSP00000419627.1:p.Ser941Pro
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser965Pro
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-121126331-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126331
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126331
    reference: chr 3
allele count: 2
allele frequency: 1.661157162079104e-5
allele num: 120398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2901T>C
  hgvsp: ENST00000273666.6:c.2901T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2829T>C
  hgvsp: ENST00000471454.1:c.2829T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2829T>C
  hgvsp: ENST00000472879.1:c.2829T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2901T>C
  hgvsp: ENST00000492541.1:c.2901T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2730T>C
  hgvsp: ENST00000471262.1:c.2730T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2823T>C
  hgvsp: ENST00000497029.1:c.2823T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31322
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48875
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr967Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-121126334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126334
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126334
    reference: chr 3
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2832C>T
  hgvsp: ENST00000471454.1:c.2832C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2904C>T
  hgvsp: ENST00000273666.6:c.2904C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2832C>T
  hgvsp: ENST00000472879.1:c.2832C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2904C>T
  hgvsp: ENST00000492541.1:c.2904C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2733C>T
  hgvsp: ENST00000471262.1:c.2733C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2826C>T
  hgvsp: ENST00000497029.1:c.2826C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys968Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-121126339-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126339
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126339
    reference: chr 3
allele count: 1
allele frequency: 8.306613725848521e-6
allele num: 120386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2837A>T
  hgvsp: ENSP00000420019.1:p.Tyr946Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2909A>T
  hgvsp: ENSP00000420666.1:p.Tyr970Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2837A>T
  hgvsp: ENSP00000419627.1:p.Tyr946Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2738A>T
  hgvsp: ENSP00000420167.1:p.Tyr913Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2831A>T
  hgvsp: ENSP00000420287.1:p.Tyr944Phe
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2909A>T
  hgvsp: ENSP00000273666.6:p.Tyr970Phe
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48877
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr970Phe
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

3-121126346-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126346
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126346
    reference: chr 3
allele count: 2
allele frequency: 1.66118475696867e-5
allele num: 120396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2916T>C
  hgvsp: ENST00000492541.1:c.2916T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2745T>C
  hgvsp: ENST00000471262.1:c.2745T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2844T>C
  hgvsp: ENST00000472879.1:c.2844T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2838T>C
  hgvsp: ENST00000497029.1:c.2838T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2916T>C
  hgvsp: ENST00000273666.6:c.2916T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2844T>C
  hgvsp: ENST00000471454.1:c.2844T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18226
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His972His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

3-121126350-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126350
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126350
    reference: chr 3
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2920A>G
  hgvsp: ENSP00000420666.1:p.Ile974Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2848A>G
  hgvsp: ENSP00000419627.1:p.Ile950Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2749A>G
  hgvsp: ENSP00000420167.1:p.Ile917Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2842A>G
  hgvsp: ENSP00000420287.1:p.Ile948Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2848A>G
  hgvsp: ENSP00000420019.1:p.Ile950Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2920A>G
  hgvsp: ENSP00000273666.6:p.Ile974Val
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile974Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

3-121126353-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126353
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126353
    reference: chr 3
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2845A>G
  hgvsp: ENSP00000420287.1:p.Thr949Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2923A>G
  hgvsp: ENSP00000420666.1:p.Thr975Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2851A>G
  hgvsp: ENSP00000420019.1:p.Thr951Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2923A>G
  hgvsp: ENSP00000273666.6:p.Thr975Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2752A>G
  hgvsp: ENSP00000420167.1:p.Thr918Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2851A>G
  hgvsp: ENSP00000419627.1:p.Thr951Ala
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr975Ala
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

3-121126354-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126354
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126354
    reference: chr 3
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2846C>T
  hgvsp: ENSP00000420287.1:p.Thr949Met
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2852C>T
  hgvsp: ENSP00000420019.1:p.Thr951Met
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2852C>T
  hgvsp: ENSP00000419627.1:p.Thr951Met
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2753C>T
  hgvsp: ENSP00000420167.1:p.Thr918Met
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2924C>T
  hgvsp: ENSP00000420666.1:p.Thr975Met
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2924C>T
  hgvsp: ENSP00000273666.6:p.Thr975Met
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr975Met
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: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

3-121126355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126355
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126355
    reference: chr 3
allele count: 2
allele frequency: 1.661654010401954e-5
allele num: 120362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2754G>A
  hgvsp: ENST00000471262.1:c.2754G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2853G>A
  hgvsp: ENST00000471454.1:c.2853G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2847G>A
  hgvsp: ENST00000497029.1:c.2847G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2853G>A
  hgvsp: ENST00000472879.1:c.2853G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2925G>A
  hgvsp: ENST00000273666.6:c.2925G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2925G>A
  hgvsp: ENST00000492541.1:c.2925G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 48857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr975Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/3-121126363-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126363
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126363
    reference: chr 3
allele count: 1
allele frequency: 8.3099270388406e-6
allele num: 120338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2933C>A
  hgvsp: ENSP00000420666.1:p.Ser978Tyr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2762C>A
  hgvsp: ENSP00000420167.1:p.Ser921Tyr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2861C>A
  hgvsp: ENSP00000420019.1:p.Ser954Tyr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2861C>A
  hgvsp: ENSP00000419627.1:p.Ser954Tyr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2933C>A
  hgvsp: ENSP00000273666.6:p.Ser978Tyr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2855C>A
  hgvsp: ENSP00000420287.1:p.Ser952Tyr
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser978Tyr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

3-121126368-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126368
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126368
    reference: chr 3
allele count: 2
allele frequency: 1.661930165694438e-5
allele num: 120342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2866A>T
  hgvsp: ENSP00000420019.1:p.Ile956Leu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2938A>T
  hgvsp: ENSP00000273666.6:p.Ile980Leu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2860A>T
  hgvsp: ENSP00000420287.1:p.Ile954Leu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2767A>T
  hgvsp: ENSP00000420167.1:p.Ile923Leu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2866A>T
  hgvsp: ENSP00000419627.1:p.Ile956Leu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2938A>T
  hgvsp: ENSP00000420666.1:p.Ile980Leu
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile980Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/3-121126370-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126370
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126370
    reference: chr 3
allele count: 1
allele frequency: 8.311446524153063e-6
allele num: 120316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2769A>C
  hgvsp: ENST00000471262.1:c.2769A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2940A>C
  hgvsp: ENST00000492541.1:c.2940A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2868A>C
  hgvsp: ENST00000471454.1:c.2868A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2940A>C
  hgvsp: ENST00000273666.6:c.2940A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2868A>C
  hgvsp: ENST00000472879.1:c.2868A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2862A>C
  hgvsp: ENST00000497029.1:c.2862A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile980Ile
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

3-121126373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126373
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126373
    reference: chr 3
allele count: 2
allele frequency: 1.662538030557449e-5
allele num: 120298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2871G>A
  hgvsp: ENST00000471454.1:c.2871G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2943G>A
  hgvsp: ENST00000273666.6:c.2943G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2772G>A
  hgvsp: ENST00000471262.1:c.2772G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2943G>A
  hgvsp: ENST00000492541.1:c.2943G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2871G>A
  hgvsp: ENST00000472879.1:c.2871G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2865G>A
  hgvsp: ENST00000497029.1:c.2865G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu981Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-121126377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126377
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126377
    reference: chr 3
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2776G>A
  hgvsp: ENSP00000420167.1:p.Ala926Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2869G>A
  hgvsp: ENSP00000420287.1:p.Ala957Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2947G>A
  hgvsp: ENSP00000273666.6:p.Ala983Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2875G>A
  hgvsp: ENSP00000420019.1:p.Ala959Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2875G>A
  hgvsp: ENSP00000419627.1:p.Ala959Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2947G>A
  hgvsp: ENSP00000420666.1:p.Ala983Thr
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala983Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

3-121126378-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126378
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126378
    reference: chr 3
allele count: 1
allele frequency: 8.313657676831499e-6
allele num: 120284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2876C>G
  hgvsp: ENSP00000420019.1:p.Ala959Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2876C>G
  hgvsp: ENSP00000419627.1:p.Ala959Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2948C>G
  hgvsp: ENSP00000420666.1:p.Ala983Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2948C>G
  hgvsp: ENSP00000273666.6:p.Ala983Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2777C>G
  hgvsp: ENSP00000420167.1:p.Ala926Gly
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2870C>G
  hgvsp: ENSP00000420287.1:p.Ala957Gly
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48841
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala983Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

3-121126393-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126393
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126393
    reference: chr 3
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2963T>C
  hgvsp: ENSP00000273666.6:p.Met988Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2963T>C
  hgvsp: ENSP00000420666.1:p.Met988Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2885T>C
  hgvsp: ENSP00000420287.1:p.Met962Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2792T>C
  hgvsp: ENSP00000420167.1:p.Met931Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2891T>C
  hgvsp: ENSP00000420019.1:p.Met964Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2891T>C
  hgvsp: ENSP00000419627.1:p.Met964Thr
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met988Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

3-121126396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126396
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126396
    reference: chr 3
allele count: 1
allele frequency: 8.32126749546491e-6
allele num: 120174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2894G>A
  hgvsp: ENSP00000419627.1:p.Cys965Tyr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2888G>A
  hgvsp: ENSP00000420287.1:p.Cys963Tyr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2795G>A
  hgvsp: ENSP00000420167.1:p.Cys932Tyr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2894G>A
  hgvsp: ENSP00000420019.1:p.Cys965Tyr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2966G>A
  hgvsp: ENSP00000273666.6:p.Cys989Tyr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2966G>A
  hgvsp: ENSP00000420666.1:p.Cys989Tyr
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys989Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

3-121126404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126404
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126404
    reference: chr 3
allele count: 32
allele frequency: 2.664268824724415e-4
allele num: 120108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2974G>A
  hgvsp: ENSP00000420666.1:p.Ala992Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2974G>A
  hgvsp: ENSP00000273666.6:p.Ala992Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2902G>A
  hgvsp: ENSP00000420019.1:p.Ala968Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2902G>A
  hgvsp: ENSP00000419627.1:p.Ala968Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2803G>A
  hgvsp: ENSP00000420167.1:p.Ala935Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2896G>A
  hgvsp: ENSP00000420287.1:p.Ala966Thr
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31274
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 18144
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala992Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

3-121126405-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126405
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126405
    reference: chr 3
allele count: 4
allele frequency: 3.33028057613854e-5
allele num: 120110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2975C>T
  hgvsp: ENSP00000420666.1:p.Ala992Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2804C>T
  hgvsp: ENSP00000420167.1:p.Ala935Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2903C>T
  hgvsp: ENSP00000420019.1:p.Ala968Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2903C>T
  hgvsp: ENSP00000419627.1:p.Ala968Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2897C>T
  hgvsp: ENSP00000420287.1:p.Ala966Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2975C>T
  hgvsp: ENSP00000273666.6:p.Ala992Val
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48784
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala992Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-121126414-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126414
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126414
    reference: chr 3
allele count: 1
allele frequency: 8.331389342486753e-6
allele num: 120028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2984C>A
  hgvsp: ENSP00000420666.1:p.Ala995Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2906C>A
  hgvsp: ENSP00000420287.1:p.Ala969Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2984C>A
  hgvsp: ENSP00000273666.6:p.Ala995Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2813C>A
  hgvsp: ENSP00000420167.1:p.Ala938Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2912C>A
  hgvsp: ENSP00000419627.1:p.Ala971Glu
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2912C>A
  hgvsp: ENSP00000420019.1:p.Ala971Glu
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala995Glu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-121126414-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126414
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126414
    reference: chr 3
allele count: 1
allele frequency: 8.331389342486753e-6
allele num: 120028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2912C>T
  hgvsp: ENSP00000419627.1:p.Ala971Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2912C>T
  hgvsp: ENSP00000420019.1:p.Ala971Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2906C>T
  hgvsp: ENSP00000420287.1:p.Ala969Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2984C>T
  hgvsp: ENSP00000273666.6:p.Ala995Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2813C>T
  hgvsp: ENSP00000420167.1:p.Ala938Val
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2984C>T
  hgvsp: ENSP00000420666.1:p.Ala995Val
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala995Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/3-121126415-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126415
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126415
    reference: chr 3
allele count: 16
allele frequency: 1.332889036987671e-4
allele num: 120040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2913A>C
  hgvsp: ENST00000471454.1:c.2913A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2985A>C
  hgvsp: ENST00000273666.6:c.2985A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2814A>C
  hgvsp: ENST00000471262.1:c.2814A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2985A>C
  hgvsp: ENST00000492541.1:c.2985A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2907A>C
  hgvsp: ENST00000497029.1:c.2907A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2913A>C
  hgvsp: ENST00000472879.1:c.2913A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala995Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-121126416-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126416
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126416
    reference: chr 3
allele count: 5
allele frequency: 4.166180612261903e-5
allele num: 120014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2986T>A
  hgvsp: ENSP00000420666.1:p.Cys996Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2908T>A
  hgvsp: ENSP00000420287.1:p.Cys970Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2914T>A
  hgvsp: ENSP00000420019.1:p.Cys972Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2986T>A
  hgvsp: ENSP00000273666.6:p.Cys996Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2914T>A
  hgvsp: ENSP00000419627.1:p.Cys972Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2815T>A
  hgvsp: ENSP00000420167.1:p.Cys939Ser
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys996Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

3-121126418-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126418
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126418
    reference: chr 3
allele count: 1
allele frequency: 8.332638946754437e-6
allele num: 120010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2916C>T
  hgvsp: ENST00000472879.1:c.2916C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2988C>T
  hgvsp: ENST00000492541.1:c.2988C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2916C>T
  hgvsp: ENST00000471454.1:c.2916C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2988C>T
  hgvsp: ENST00000273666.6:c.2988C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2910C>T
  hgvsp: ENST00000497029.1:c.2910C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2817C>T
  hgvsp: ENST00000471262.1:c.2817C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31282
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys996Cys
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-121126425-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126425
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126425
    reference: chr 3
allele count: 114
allele frequency: 9.507764674484162e-4
allele num: 119902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2917G>T
  hgvsp: ENSP00000420287.1:p.Ala973Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2923G>T
  hgvsp: ENSP00000419627.1:p.Ala975Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2923G>T
  hgvsp: ENSP00000420019.1:p.Ala975Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2824G>T
  hgvsp: ENSP00000420167.1:p.Ala942Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2995G>T
  hgvsp: ENSP00000420666.1:p.Ala999Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2995G>T
  hgvsp: ENSP00000273666.6:p.Ala999Ser
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 31244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8812
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18132
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala999Ser
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

3-121126427-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126427
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126427
    reference: chr 3
allele count: 1
allele frequency: 8.342510094437214e-6
allele num: 119868
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2925T>C
  hgvsp: ENST00000472879.1:c.2925T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2925T>C
  hgvsp: ENST00000471454.1:c.2925T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.2997T>C
  hgvsp: ENST00000492541.1:c.2997T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.2997T>C
  hgvsp: ENST00000273666.6:c.2997T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2826T>C
  hgvsp: ENST00000471262.1:c.2826T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2919T>C
  hgvsp: ENST00000497029.1:c.2919T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala999Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/3-121126430-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126430
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126430
    reference: chr 3
allele count: 1
allele frequency: 8.344877079960612e-6
allele num: 119834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2922C>A
  hgvsp: ENSP00000420287.1:p.Asn974Lys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2928C>A
  hgvsp: ENSP00000419627.1:p.Asn976Lys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.3000C>A
  hgvsp: ENSP00000420666.1:p.Asn1000Lys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3000C>A
  hgvsp: ENSP00000273666.6:p.Asn1000Lys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2928C>A
  hgvsp: ENSP00000420019.1:p.Asn976Lys
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2829C>A
  hgvsp: ENSP00000420167.1:p.Asn943Lys
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn1000Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

3-121126430-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126430
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126430
    reference: chr 3
allele count: 3
allele frequency: 2.503463123988184e-5
allele num: 119834
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2922C>T
  hgvsp: ENST00000497029.1:c.2922C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.3000C>T
  hgvsp: ENST00000492541.1:c.3000C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3000C>T
  hgvsp: ENST00000273666.6:c.3000C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2829C>T
  hgvsp: ENST00000471262.1:c.2829C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2928C>T
  hgvsp: ENST00000472879.1:c.2928C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2928C>T
  hgvsp: ENST00000471454.1:c.2928C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31290
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn1000Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

3-121126445-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126445
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126445
    reference: chr 3
allele count: 1
allele frequency: 8.366940544520491e-6
allele num: 119518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2844A>G
  hgvsp: ENSP00000420167.1:p.Ile948Met
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.3015A>G
  hgvsp: ENSP00000420666.1:p.Ile1005Met
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2943A>G
  hgvsp: ENSP00000420019.1:p.Ile981Met
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3015A>G
  hgvsp: ENSP00000273666.6:p.Ile1005Met
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2943A>G
  hgvsp: ENSP00000419627.1:p.Ile981Met
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2937A>G
  hgvsp: ENSP00000420287.1:p.Ile979Met
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile1005Met
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-121126450-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126450
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126450
    reference: chr 3
allele count: 1
allele frequency: 8.38208915190022e-6
allele num: 119302
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3020G>C
  hgvsp: ENSP00000273666.6:p.Ser1007Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2948G>C
  hgvsp: ENSP00000419627.1:p.Arg983Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.3020G>C
  hgvsp: ENSP00000420666.1:p.Arg1007Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2948G>C
  hgvsp: ENSP00000420019.1:p.Ser983Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2849G>C
  hgvsp: ENSP00000420167.1:p.Ser950Thr
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2942G>C
  hgvsp: ENSP00000420287.1:p.Arg981Thr
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7082
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1007Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-121126456-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126456
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126456
    reference: chr 3
allele count: 1
allele frequency: 8.422754914677492e-6
allele num: 118726
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.3026T>G
  hgvsp: ENSP00000420666.1:p.Leu1009Trp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2954T>G
  hgvsp: ENSP00000419627.1:p.Leu985Trp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2849+6T>G
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2948T>G
  hgvsp: ENSP00000420287.1:p.Leu983Trp
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2948+6T>G
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3020+6T>G
  variant of: http://identifiers.org/hgnc/30757
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu983Trp
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

3-121126457-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126457
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126457
    reference: chr 3
allele count: 1
allele frequency: 8.423890152472412e-6
allele num: 118710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.3027G>A
  hgvsp: ENST00000492541.1:c.3027G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2849+7G>A
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2955G>A
  hgvsp: ENST00000472879.1:c.2955G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2948+7G>A
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3020+7G>A
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2949G>A
  hgvsp: ENST00000497029.1:c.2949G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
hgvs: c.3020+7G>A
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-121126458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126458
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126458
    reference: chr 3
allele count: 1
allele frequency: 8.429002511842749e-6
allele num: 118638
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3020+8C>T
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2956C>T
  hgvsp: ENSP00000419627.1:p.Pro986Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2948+8C>T
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2950C>T
  hgvsp: ENSP00000420287.1:p.Pro984Ser
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2849+8C>T
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.3028C>T
  hgvsp: ENSP00000420666.1:p.Pro1010Ser
  variant of: http://identifiers.org/hgnc/30757
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8589
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro984Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-121126467-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126467
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126467
    reference: chr 3
allele count: 1
allele frequency: 8.499932000543996e-6
allele num: 117648
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2959A>T
  hgvsp: ENSP00000420287.1:p.Lys987Ter
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2965A>T
  hgvsp: ENSP00000419627.1:p.Lys989Ter
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3020+17A>T
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2948+17A>T
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.3037A>T
  hgvsp: ENSP00000420666.1:p.Lys1013Ter
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2849+17A>T
  variant of: http://identifiers.org/hgnc/30757
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys987Ter
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-121126491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126491
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126491
    reference: chr 3
allele count: 1
allele frequency: 9.237533947937259e-6
allele num: 108254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2948+41A>G
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2849+41A>G
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2989A>G
  hgvsp: ENSP00000419627.1:p.Thr997Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.3061A>G
  hgvsp: ENSP00000420666.1:p.Thr1021Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2983A>G
  hgvsp: ENSP00000420287.1:p.Thr995Ala
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3020+41A>G
  variant of: http://identifiers.org/hgnc/30757
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24551
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10929
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr995Ala
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

3-121126493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126493
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126493
    reference: chr 3
allele count: 1
allele frequency: 9.601167501968239e-6
allele num: 104154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2849+43C>T
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2985C>T
  hgvsp: ENST00000497029.1:c.2985C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3020+43C>T
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2948+43C>T
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2991C>T
  hgvsp: ENST00000472879.1:c.2991C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.3063C>T
  hgvsp: ENST00000492541.1:c.3063C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14670
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr995Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

3-121126500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126500
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126500
    reference: chr 3
allele count: 54
allele frequency: 5.473675674579845e-4
allele num: 98654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.2992G>A
  hgvsp: ENSP00000420287.1:p.Val998Ile
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2849+50G>A
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.2998G>A
  hgvsp: ENSP00000419627.1:p.Val1000Ile
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.3070G>A
  hgvsp: ENSP00000420666.1:p.Val1024Ile
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2948+50G>A
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3020+50G>A
  variant of: http://identifiers.org/hgnc/30757
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18533
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12067
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11372
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.75e1
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19834
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3776
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val998Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-121126508-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126508
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126508
    reference: chr 3
allele count: 3
allele frequency: 3.29070048044227e-5
allele num: 91166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2849+58C>T
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2948+58C>T
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  hgvsc: ENST00000497029.1:c.3000C>T
  hgvsp: ENST00000497029.1:c.3000C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  hgvsc: ENST00000492541.1:c.3078C>T
  hgvsp: ENST00000492541.1:c.3078C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  hgvsc: ENST00000472879.1:c.3006C>T
  hgvsp: ENST00000472879.1:c.3006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3020+58C>T
  variant of: http://identifiers.org/hgnc/30757
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10112
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21878
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1000Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

3-121126514-AAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126514
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126512
    reference: chr 3
allele count: 1
allele frequency: 1.16362959342782e-5
allele num: 85938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000419627
  ensembl transcript: ENST00000472879
  gene symbol: STXBP5L
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3020+69_3020+70delAT
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2849+69_2849+70delAT
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420666
  ensembl transcript: ENST00000492541
  gene symbol: STXBP5L
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2948+69_2948+70delAT
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420287
  ensembl transcript: ENST00000497029
  gene symbol: STXBP5L
  variant of: http://identifiers.org/hgnc/30757
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: AAT
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum

3-121126516-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121126516
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 121126516
    reference: chr 3
allele count: 1
allele frequency: 1.20898517784172e-5
allele num: 82714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420019
  ensembl transcript: ENST00000471454
  gene symbol: STXBP5L
  hgvsc: ENST00000471454.1:c.2948+66T>C
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000420167
  ensembl transcript: ENST00000471262
  gene symbol: STXBP5L
  hgvsc: ENST00000471262.1:c.2849+66T>C
  variant of: http://identifiers.org/hgnc/30757
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000145087
  ensembl protein: ENSP00000273666
  ensembl transcript: ENST00000273666
  gene symbol: STXBP5L
  hgvsc: ENST00000273666.6:c.3020+66T>C
  variant of: http://identifiers.org/hgnc/30757
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1831
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42124
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1378
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3489
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578233010321644e-5
allele num: 63362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.237e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.21e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 1.462e0

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

DP
type: SiteQuality
SIO_000300: 1.508799e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.38e0

GenotypeQuality
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42179
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.417322834645669e-4
allele num: 63500
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.882572392965002e-5
allele num: 11258
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.19e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

DP
type: SiteQuality
SIO_000300: 1.511322e6

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.24e-1

FS
type: SiteQuality
SIO_000300: 5.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.053518752633797e-4
allele num: 9492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.51452e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.15e0

VQSLOD
type: SiteQuality
SIO_000300: -8.808e-1

QD
type: SiteQuality
SIO_000300: 1.828e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeQuality
all individuals: 243
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7143
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42385
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567791295622727e-5
allele num: 63784
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.897e1

MQRankSum
type: SiteQuality
SIO_000300: 9.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.113e0

QD
type: SiteQuality
SIO_000300: 1.655e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.495e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 1.011e0

DP
type: SiteQuality
SIO_000300: 1.518834e6

GenotypeQuality
all individuals: 84
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 927
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.716764990479758e-4
allele num: 64074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.871540099361249e-5
allele num: 11272
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

DP
type: SiteQuality
SIO_000300: 1.526278e6

FS
type: SiteQuality
SIO_000300: 1.108e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
all individuals: 914
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 302
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1335
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.583534274888047e-4
allele num: 11612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64672
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.066e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.192e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 5.38e0

DP
type: SiteQuality
SIO_000300: 1.540241e6

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3460
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1324
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7121
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43333
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11798
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.694e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e0

QD
type: SiteQuality
SIO_000300: 1.194e1

DP
type: SiteQuality
SIO_000300: 1.542367e6

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.025e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7086
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43983
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.068049334233295e-5
allele num: 65188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12888
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.67e0

QD
type: SiteQuality
SIO_000300: 1.32e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

DP
type: SiteQuality
SIO_000300: 1.555931e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 196
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526158354190831e-5
allele num: 65524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 2.934e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.387e0

QD
type: SiteQuality
SIO_000300: 1.238e1

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.56562e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.04e-1

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7211
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1303
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46792
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515289268721399e-5
allele num: 65994
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.062e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.179e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.587356e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 6.866e0

MQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

QD
type: SiteQuality
SIO_000300: 2.023e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

GenotypeQuality
all individuals: 132
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 47021
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7222
bin: 6.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026909222992402e-5
allele num: 66074
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.069995906672124e-4
allele num: 9772
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.486766995329527e-5
allele num: 15416
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.338e1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

DP
type: SiteQuality
SIO_000300: 1.590853e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7251
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510026576467746e-5
allele num: 66224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15840
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

MQ
type: SiteQuality
SIO_000300: 5.857e1

VQSLOD
type: SiteQuality
SIO_000300: -2.003e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 1.596069e6

MQRankSum
type: SiteQuality
SIO_000300: 2.62e0

FS
type: SiteQuality
SIO_000300: 7.358e0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7251
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47945
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1148
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507113576079093e-5
allele num: 66352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.602062e6

VQSLOD
type: SiteQuality
SIO_000300: -6.572e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.227e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

FS
type: SiteQuality
SIO_000300: 9.576000000000001e0

QD
type: SiteQuality
SIO_000300: 1.504e1

GenotypeQuality
all individuals: 82
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1150
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 503
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7259
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506568639267205e-5
allele num: 66376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.47e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.377e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-1

DP
type: SiteQuality
SIO_000300: 1.602711e6

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7258
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506568639267205e-5
allele num: 66376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.717e0

DP
type: SiteQuality
SIO_000300: 1.603102e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.55e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1146
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.506e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

QD
type: SiteQuality
SIO_000300: 1.471e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.61e-1

DP
type: SiteQuality
SIO_000300: 1.603759e6

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7258
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 852
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169317118802619e-4
allele num: 8552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.604249e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.32e0

FS
type: SiteQuality
SIO_000300: 1.1182e1

VQSLOD
type: SiteQuality
SIO_000300: -7.786999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.616e1

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48192
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 2.78e0

DP
type: SiteQuality
SIO_000300: 1.60433e6

VQSLOD
type: SiteQuality
SIO_000300: 4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.627e0

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 7255
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.042102701387199e-4
allele num: 16436
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

FS
type: SiteQuality
SIO_000300: 2.886e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.604883e6

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7253
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 849
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.239e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 2.213e0

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

DP
type: SiteQuality
SIO_000300: 1.605121e6

QD
type: SiteQuality
SIO_000300: 1.404e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.564e0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48328
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 9.75e1
variant carriers: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.512092407652509e-5
allele num: 66488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.051e0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.605582e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.373e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

GenotypeQuality
all individuals: 1300
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7254
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007609251406057e-5
allele num: 66498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e-1

QD
type: SiteQuality
SIO_000300: 1.533e1

DP
type: SiteQuality
SIO_000300: 1.605715e6

MQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7246
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.6e0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.60577e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.095e-1

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 179
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.46e-1

QD
type: SiteQuality
SIO_000300: 6.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.679999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.061e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

FS
type: SiteQuality
SIO_000300: 1.017e0

MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
SIO_000300: 1.605979e6

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-1

GenotypeQuality
all individuals: 1134
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 847
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

DP
type: SiteQuality
SIO_000300: 1.605924e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.289e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

FS
type: SiteQuality
SIO_000300: 7.897e0

QD
type: SiteQuality
SIO_000300: 1.318e1

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.5e0
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GenotypeQuality
all individuals: 217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005981903988938e-5
allele num: 66534
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

QD
type: SiteQuality
SIO_000300: 1.404e1

FS
type: SiteQuality
SIO_000300: 4.813e0

DP
type: SiteQuality
SIO_000300: 1.605945e6

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.83e-1

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 9.75e1
variant carriers: 351

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
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GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 18
allele frequency: 1.58144438587243e-3
allele num: 11382
num of homozygotes: 0

African
type: Population
allele count: 337
allele frequency: 3.444399018806214e-2
allele num: 9784
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508837321149453e-5
allele num: 66536
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.01e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.114e0

QD
type: SiteQuality
SIO_000300: 1.449e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.2e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

DP
type: SiteQuality
SIO_000300: 1.621099e6

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 48641
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.600186e6

MQ
type: SiteQuality
SIO_000300: 6.034e1

VQSLOD
type: SiteQuality
SIO_000300: 9.81e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

FS
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

GenotypeQuality
all individuals: 228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48696
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7258
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 7.25e1
variant carriers: 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: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.600415e6

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

FS
type: SiteQuality
SIO_000300: 2.587e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.23e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7252
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.022704029453876e-4
allele num: 9778
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.600485e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

FS
type: SiteQuality
SIO_000300: 2.52e0

QD
type: SiteQuality
SIO_000300: 1.173e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.177e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

GenotypeQuality
all individuals: 1118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48720
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.022285831118381e-4
allele num: 9782
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.38e-1

FS
type: SiteQuality
SIO_000300: 8.122e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.062e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e-1

DP
type: SiteQuality
SIO_000300: 1.600628e6

QD
type: SiteQuality
SIO_000300: 1.258e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.675e0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48729
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1116
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.10292306305765e-4
allele num: 66574
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.601431e6

MQRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.523e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e0

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 7253
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.601016e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.22e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

QD
type: SiteQuality
SIO_000300: 1.136e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.78e-1

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7253
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48860
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.212e0

FS
type: SiteQuality
SIO_000300: 7.704e0

QD
type: SiteQuality
SIO_000300: 1.293e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.601474e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

VQSLOD
type: SiteQuality
SIO_000300: -1.207e0

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

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1274
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00228173411793e-5
allele num: 66616
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 3.59e0

MQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

QD
type: SiteQuality
SIO_000300: 1.526e1

DP
type: SiteQuality
SIO_000300: 1.601698e6

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

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48871
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.83e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: -6.89e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.387e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.299e1

DP
type: SiteQuality
SIO_000300: 1.601623e6

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

GenotypeQuality
all individuals: 7248
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.091e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.60164e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.356e1

FS
type: SiteQuality
SIO_000300: 8.29e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

GenotypeQuality
all individuals: 69
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48848
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.045408058907752e-4
allele num: 9778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.725e-1

FS
type: SiteQuality
SIO_000300: 9.654999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

DP
type: SiteQuality
SIO_000300: 1.601326e6

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1108
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02291325695581e-4
allele num: 9776
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

FS
type: SiteQuality
SIO_000300: 2.188e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.201e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

DP
type: SiteQuality
SIO_000300: 1.601159e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

GenotypeQuality
all individuals: 204
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7246
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.906e1

FS
type: SiteQuality
SIO_000300: 2.662e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.443e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.767e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

DP
type: SiteQuality
SIO_000300: 1.601043e6

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7243
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.076e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 1.6011e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -1.991e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.319e0

FS
type: SiteQuality
SIO_000300: 2.255e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.82e1

MQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7243
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.022704029453876e-4
allele num: 9778
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.302e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

FS
type: SiteQuality
SIO_000300: 8.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.601227e6

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48848
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7241
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.0591e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.094e0

VQSLOD
type: SiteQuality
SIO_000300: -8.102e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.22e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

DP
type: SiteQuality
SIO_000300: 1.600671e6

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.04582651391162e-4
allele num: 9776
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 1.0332e1

MQRankSum
type: SiteQuality
SIO_000300: 5.12e-1

DP
type: SiteQuality
SIO_000300: 1.600658e6

QD
type: SiteQuality
SIO_000300: 1.337e1

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1271
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
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variant carriers: 0

GenotypeQuality
all individuals: 614
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 160
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.02291325695581e-4
allele num: 9776
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

FS
type: SiteQuality
SIO_000300: 4.249e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.676e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.601e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.013e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

DP
type: SiteQuality
SIO_000300: 1.600243e6

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1269
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004627125773691e-5
allele num: 66564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.495e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

FS
type: SiteQuality
SIO_000300: 1.139e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

DP
type: SiteQuality
SIO_000300: 1.600337e6

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 1108
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48833
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.755034144633164e-5
allele num: 11422
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.600161e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.293e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.162e0

MQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

FS
type: SiteQuality
SIO_000300: 4.694e0

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.253e1

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7245
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.107e0

DP
type: SiteQuality
SIO_000300: 1.600098e6

VQSLOD
type: SiteQuality
SIO_000300: 7.57e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 4.108e0

MQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.704e0

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48761
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.301e0

FS
type: SiteQuality
SIO_000300: 3.144e0

QD
type: SiteQuality
SIO_000300: 1.433e1

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

DP
type: SiteQuality
SIO_000300: 1.598946e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.126e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 5.559e0

MQRankSum
type: SiteQuality
SIO_000300: -1.832e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.618e0

VQSLOD
type: SiteQuality
SIO_000300: -1.022e0

QD
type: SiteQuality
SIO_000300: 1.133e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.598991e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.24e-1

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 289
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 1261
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48740
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 30
allele frequency: 3.075661267172442e-3
allele num: 9754
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.757469244288225e-4
allele num: 11380
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

DP
type: SiteQuality
SIO_000300: 1.600154e6

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.353e0

QD
type: SiteQuality
SIO_000300: 1.364e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

GenotypeQuality
all individuals: 296
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.75e1
variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.015942246954429e-5
allele num: 66490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.189e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.93e-1

FS
type: SiteQuality
SIO_000300: 2.045e0

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.597853e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.375e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48771
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7206
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.596954e6

VQSLOD
type: SiteQuality
SIO_000300: 7.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.138e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.031e0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48771
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.170411985018727e-4
allele num: 8544
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.031e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.138e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

DP
type: SiteQuality
SIO_000300: 1.596954e6

VQSLOD
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

GenotypeQuality
all individuals: 591
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 1258
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.407825432656133e-4
allele num: 66450
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.597336e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

FS
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.442e1

GenotypeQuality
all individuals: 1261
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 154
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.525813540443722e-5
allele num: 66438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

QD
type: SiteQuality
SIO_000300: 1.487e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.53e-1

DP
type: SiteQuality
SIO_000300: 1.59637e6

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 5.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

GenotypeQuality
all individuals: 1258
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1091
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7200
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.074e0

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.428e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: -2.173e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.577e0

DP
type: SiteQuality
SIO_000300: 1.596047e6

QD
type: SiteQuality
SIO_000300: 1.115e1

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 9.75e1
variant carriers: 113

GenotypeQuality
all individuals: 48692
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.62660158633313e-4
allele num: 6556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 106
allele frequency: 1.597059000783463e-3
allele num: 66372
num of homozygotes: 1

African
type: Population
allele count: 3
allele frequency: 3.081347576006573e-4
allele num: 9736
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

QD
type: SiteQuality
SIO_000300: 1.309e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.62e0

DP
type: SiteQuality
SIO_000300: 1.5983e6

FS
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

GenotypeQuality
all individuals: 458
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7188
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 1.592876e6

FS
type: SiteQuality
SIO_000300: 2.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.23e-1

QD
type: SiteQuality
SIO_000300: 1.695e1

GenotypeQuality
all individuals: 48771
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507522537461935e-5
allele num: 66334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.348e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

FS
type: SiteQuality
SIO_000300: 4.96e-1

DP
type: SiteQuality
SIO_000300: 1.592556e6

GenotypeQuality
all individuals: 409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 48771
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
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: 1.507522537461935e-5
allele num: 66334
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.592556e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

FS
type: SiteQuality
SIO_000300: 4.96e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

GenotypeQuality
all individuals: 449
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1067
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 498
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.178411501296253e-4
allele num: 8486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66152
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

QD
type: SiteQuality
SIO_000300: 1.542e1

DP
type: SiteQuality
SIO_000300: 1.586959e6

FS
type: SiteQuality
SIO_000300: 6.287e0

MQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

GenotypeQuality
all individuals: 176
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48360
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66038
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.0960741282614e-5
allele num: 16404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.583086e6

VQSLOD
type: SiteQuality
SIO_000300: -3.268e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.721e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.902e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 3.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

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

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9660
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.13421666053245e-5
allele num: 16302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.517e-1

FS
type: SiteQuality
SIO_000300: 3.892e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 1.57391e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.89e-1

QD
type: SiteQuality
SIO_000300: 1.585e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.15e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 1199
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47893
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522487134983709e-5
allele num: 65682
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 4.767e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

DP
type: SiteQuality
SIO_000300: 1.573723e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.011e0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 9.44e0

VQSLOD
type: SiteQuality
SIO_000300: -1.248e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.36e-1

GenotypeQuality
all individuals: 72
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6950
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523507724184162e-5
allele num: 65638
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.505e0

VQSLOD
type: SiteQuality
SIO_000300: -2.31e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.227e1

FS
type: SiteQuality
SIO_000300: 8.65e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

DP
type: SiteQuality
SIO_000300: 1.572294e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

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

GenotypeQuality
all individuals: 482
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 224
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1137
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.199628022318661e-5
allele num: 16130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.552142e6

FS
type: SiteQuality
SIO_000300: 3.471e0

QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

GenotypeQuality
all individuals: 478
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38026
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5257
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.680898272036576e-5
allele num: 59492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

QD
type: SiteQuality
SIO_000300: 1.394e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.382851e6

GenotypeQuality
all individuals: 486
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13826
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.364256480218281e-4
allele num: 7330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.6e-2

DP
type: SiteQuality
SIO_000300: 1.305989e6

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.415e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.17e0

GenotypeQuality
all individuals: 453
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 267
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1693
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.038853106170787e-4
allele num: 9626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.550210908014505e-5
allele num: 54052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

African
type: Population
allele count: 50
allele frequency: 5.950964056177101e-3
allele num: 8402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5882
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.275e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

DP
type: SiteQuality
SIO_000300: 1.196216e6

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

QD
type: SiteQuality
SIO_000300: 1.417e1

GenotypeQuality
all individuals: 115
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 353
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.998001998001998e-5
allele num: 50050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.673360107095047e-4
allele num: 11952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8764
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.247e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.274e0

VQSLOD
type: SiteQuality
SIO_000300: 4.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

DP
type: SiteQuality
SIO_000300: 1.048261e6

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16011
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5368
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.729505361466621e-4
allele num: 5782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47244
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.96e-1

MQ
type: SiteQuality
SIO_000300: 6.098e1

QD
type: SiteQuality
SIO_000300: 1.959e1

FS
type: SiteQuality
SIO_000300: 4.102e0

DP
type: SiteQuality
SIO_000300: 9.41488e5

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0