8-80679356-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679356
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679356
    reference: chr 8
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.543-29C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.166-29C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.52-29C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.457C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.287-29C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.166-29C>A
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6018
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19050
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

8-80679357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679357
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679357
    reference: chr 8
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.543-30G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.166-30G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.287-30G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.166-30G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.456G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.52-30G>A
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19050
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

8-80679358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679358
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679358
    reference: chr 8
allele count: 3
allele frequency: 2.473533194815474e-5
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.166-31T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.543-31T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.455T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.166-31T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.287-31T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.52-31T>C
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19052
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4187
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

8-80679370-A-AATTCACTGGAGAAGATTCTATGTGCATTCGAAAATGTACTGACAGGGAACTGCACACACCACACAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679370
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679436
    reference: chr 8
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: AATTCACTGGAGAAGATTCTATGTGCATTCGAAAATGTACTGACAGGGAACTGCACACACCACACAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/8-80679371-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679371
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679371
    reference: chr 8
allele count: 5
allele frequency: 4.124936063491016e-5
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.442G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.52-44G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.543-44G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.166-44G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.287-44G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.166-44G>T
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

8-80679373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679373
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679373
    reference: chr 8
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.166-46C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.543-46C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.440C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.166-46C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.52-46C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.287-46C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6418
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

8-80679412-TAATC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679412
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679408
    reference: chr 8
allele count: 1
allele frequency: 8.270888127967181e-6
allele num: 120906
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.165+38_165+41delGATT
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.286+38_286+41delGATT
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.397_400delGATT
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.51+38_51+41delGATT
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.165+38_165+41delGATT
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.542+38_542+41delGATT
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9964
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: TAATC
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

8-80679418-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679418
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679418
    reference: chr 8
allele count: 7
allele frequency: 5.790387955993052e-5
allele num: 120890
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.165+36T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.395T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.165+36T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.542+36T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.286+36T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.51+36T>C
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9964
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

8-80679428-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679428
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679428
    reference: chr 8
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.542+26A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.286+26A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.385A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.51+26A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.165+26A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.165+26A>G
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9961
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6468
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-80679433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679433
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679433
    reference: chr 8
allele count: 2
allele frequency: 1.654697686732634e-5
allele num: 120868
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.165+21C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.51+21C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.165+21C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.542+21C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.286+21C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.380C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9960
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

8-80679436-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679436
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679436
    reference: chr 8
allele count: 4
allele frequency: 3.309943068979214e-5
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.542+18C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.165+18C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.286+18C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.165+18C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.377C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.51+18C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9959
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

8-80679440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679440
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679440
    reference: chr 8
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.165+14C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.51+14C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.286+14C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.373C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.165+14C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.542+14C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

http://identifiers.org/exac.variant/8-80679444-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679444
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679444
    reference: chr 8
allele count: 5
allele frequency: 4.13633355393779e-5
allele num: 120880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.542+10T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.165+10T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.286+10T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.165+10T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.51+10T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.369T>G
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47309
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-80679448-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679448
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679448
    reference: chr 8
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.286+6T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.165+6T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.365T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.165+6T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.542+6T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.51+6T>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.165+6T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

8-80679462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679462
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679462
    reference: chr 8
allele count: 1
allele frequency: 8.275131574592036e-6
allele num: 120844
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.157C>T
  hgvsp: ENSP00000338272.5:p.Arg53Trp
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.351C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.278C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.534C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.157C>T
  hgvsp: ENSP00000346761.3:p.Arg53Trp
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.43C>T
  hgvsp: ENSP00000429705.1:p.Arg15Trp
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg53Trp
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

8-80679469-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679469
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679469
    reference: chr 8
allele count: 2
allele frequency: 1.654971534489607e-5
allele num: 120848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.271A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.344A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.150A>G
  hgvsp: ENST00000354724.3:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.150A>G
  hgvsp: ENST00000337919.5:c.150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.36A>G
  hgvsp: ENST00000518733.1:c.36A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.527A>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4465
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg50Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

8-80679483-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679483
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679483
    reference: chr 8
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.22C>G
  hgvsp: ENSP00000429705.1:p.Gln8Glu
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.136C>G
  hgvsp: ENSP00000338272.5:p.Gln46Glu
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.513C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.257C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.330C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.136C>G
  hgvsp: ENSP00000346761.3:p.Gln46Glu
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47304
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln46Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

8-80679484-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679484
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679484
    reference: chr 8
allele count: 4
allele frequency: 3.31065534422539e-5
allele num: 120822
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.329C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.135C>G
  hgvsp: ENST00000337919.5:c.135C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.21C>G
  hgvsp: ENST00000518733.1:c.21C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.135C>G
  hgvsp: ENST00000354724.3:c.135C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.512C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.256C>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6889
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser45Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

8-80679492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679492
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679492
    reference: chr 8
allele count: 8
allele frequency: 6.621968380100984e-5
allele num: 120810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.127A>G
  hgvsp: ENSP00000346761.3:p.Thr43Ala
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.321A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.127A>G
  hgvsp: ENSP00000338272.5:p.Thr43Ala
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.504A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.13A>G
  hgvsp: ENSP00000429705.1:p.Thr5Ala
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.248A>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9948
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47302
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr43Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

8-80679495-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679495
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679495
    reference: chr 8
allele count: 3
allele frequency: 2.483690432824453e-5
allele num: 120788
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.245A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.318A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.124A>G
  hgvsp: ENSP00000338272.5:p.Thr42Ala
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.10A>G
  hgvsp: ENSP00000429705.1:p.Thr4Ala
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.124A>G
  hgvsp: ENSP00000346761.3:p.Thr42Ala
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.501A>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr42Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

8-80679499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679499
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679499
    reference: chr 8
allele count: 3
allele frequency: 2.484430899695243e-5
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.120C>T
  hgvsp: ENST00000354724.3:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.120C>T
  hgvsp: ENST00000337919.5:c.120C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.241C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.6C>T
  hgvsp: ENST00000518733.1:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.497C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.314C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4147
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser40Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

8-80679504-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679504
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679504
    reference: chr 8
allele count: 3
allele frequency: 2.485212982752622e-5
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.492A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.115A>G
  hgvsp: ENSP00000338272.5:p.Met39Val
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.115A>G
  hgvsp: ENSP00000346761.3:p.Met39Val
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.309A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.1A>G
  hgvsp: ENSP00000429705.1:p.Met1?
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.236A>G
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47301
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

8-80679508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679508
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679508
    reference: chr 8
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-4T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.305T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.111T>C
  hgvsp: ENST00000337919.5:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.488T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.232T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.111T>C
  hgvsp: ENST00000354724.3:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47301
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly37Gly
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-80679509-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679509
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679509
    reference: chr 8
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.487G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.110G>T
  hgvsp: ENSP00000346761.3:p.Gly37Val
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.304G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-5G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.231G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.110G>T
  hgvsp: ENSP00000338272.5:p.Gly37Val
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9937
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly37Val
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-80679512-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679512
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679512
    reference: chr 8
allele count: 4
allele frequency: 3.316474587513473e-5
allele num: 120610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.107T>C
  hgvsp: ENSP00000346761.3:p.Leu36Pro
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.301T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.107T>C
  hgvsp: ENSP00000338272.5:p.Leu36Pro
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.228T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.484T>C
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9936
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu36Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

8-80679513-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679513
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679513
    reference: chr 8
allele count: 1
allele frequency: 8.291598951941893e-6
allele num: 120604
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-9C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.227C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.106C>G
  hgvsp: ENSP00000338272.5:p.Leu36Val
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.300C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.483C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.106C>G
  hgvsp: ENSP00000346761.3:p.Leu36Val
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu36Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/8-80679517-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679517
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679517
    reference: chr 8
allele count: 2
allele frequency: 1.659007581664648e-5
allele num: 120554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.479G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-13G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.223G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.102G>T
  hgvsp: ENST00000337919.5:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.102G>T
  hgvsp: ENST00000354724.3:c.102G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.296G>T
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47300
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser34Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

8-80679525-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679525
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679525
    reference: chr 8
allele count: 1
allele frequency: 8.30675172780436e-6
allele num: 120384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.471T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.94T>C
  hgvsp: ENST00000337919.5:c.94T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.288T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.215T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.94T>C
  hgvsp: ENST00000354724.3:c.94T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-21T>C
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9931
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu32Leu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

8-80679529-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679529
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679529
    reference: chr 8
allele count: 1
allele frequency: 8.310479514667997e-6
allele num: 120330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.211A>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.467A>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.90A>T
  hgvsp: ENST00000354724.3:c.90A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.284A>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-25A>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.90A>T
  hgvsp: ENST00000337919.5:c.90A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9930
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6421
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47299
  bin: 9.75e1
  variant carriers: 1
hgvs: c.90A>T
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

8-80679532-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679532
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679532
    reference: chr 8
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.464C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.90-3C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.211-3C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.90-3C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-28C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.284-3C>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
hgvs: c.90-3C>G
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

8-80679535-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679535
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679535
    reference: chr 8
allele count: 3
allele frequency: 2.496297159213833e-5
allele num: 120178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.461T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.284-6T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.90-6T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.90-6T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.211-6T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-31T>C
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9928
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
hgvs: c.90-6T>C
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

8-80679541-AAAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679541
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679537
    reference: chr 8
allele count: 1
allele frequency: 8.324869715788949e-6
allele num: 120122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.451_454delCTTT
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-41_-38delCTTT
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.90-16_90-13delCTTT
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.284-16_284-13delCTTT
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.90-16_90-13delCTTT
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.211-16_211-13delCTTT
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9919
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: AAAAG
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

8-80679548-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679548
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679548
    reference: chr 8
allele count: 2
allele frequency: 1.674004385891491e-5
allele num: 119474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-44G>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.90-19G>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.90-19G>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.448G>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.284-19G>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.211-19G>C
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47112
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 897
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 313
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genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 490
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5531
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/8-80679556-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679556
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679556
    reference: chr 8
allele count: 1
allele frequency: 8.349754517217195e-6
allele num: 119764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.211-27T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-52T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.284-27T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.440T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.90-27T>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.90-27T>G
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9711
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4172
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47236
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

8-80679563-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679563
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679563
    reference: chr 8
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.90-34T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.284-34T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.211-34T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-59T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.90-34T>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.433T>C
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-80679575-CGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679575
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679573
    reference: chr 8
allele count: 2
allele frequency: 1.678415575696542e-5
allele num: 119160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.284-48_284-47delTC
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-73_-72delTC
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.419_420delTC
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.90-48_90-47delTC
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.90-48_90-47delTC
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.211-48_211-47delTC
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47340
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: CGA
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-80679578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679578
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679578
    reference: chr 8
allele count: 1
allele frequency: 8.391092016715055e-6
allele num: 119174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-74C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.418C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.284-49C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.90-49C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.211-49C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.90-49C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

8-80679581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679581
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679581
    reference: chr 8
allele count: 1
allele frequency: 8.407741848694278e-6
allele num: 118938
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.211-52C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.284-52C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.90-52C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.90-52C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000429705
  ensembl transcript: ENST00000518733
  gene symbol: HEY1
  hgvsc: ENST00000518733.1:c.-77C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.415C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9749
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-80679766-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679766
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679765
    reference: chr 8
allele count: 1
allele frequency: 1.877863742206866e-5
allele num: 53252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.229delG
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.210+43delG
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.89+43delG
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.89+43delG
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.283+43delG
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15303
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8575
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20995
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5075
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: GC
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

8-80679769-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679769
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679769
    reference: chr 8
allele count: 1
allele frequency: 1.863168877627068e-5
allele num: 53672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.283+41A>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.210+41A>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.227A>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.89+41A>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.89+41A>C
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8674
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15233
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8701
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5098
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

8-80679779-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679779
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679779
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 51956
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.89+31C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.89+31C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.210+31C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.217C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.283+31C>A
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24840
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20407
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4990
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

8-80679784-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679784
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679784
    reference: chr 8
allele count: 5
allele frequency: 9.33253695684635e-5
allele num: 53576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.89+26C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.212C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.210+26C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.283+26C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.89+26C>G
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13764
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25260
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7826
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

8-80679791-T-TCCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679791
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679794
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 55506
alternate allele: TCCG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.89+16_89+18dupCGG
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.283+16_283+18dupCGG
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.210+16_210+18dupCGG
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.202_204dupCGG
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.89+16_89+18dupCGG
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25408
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6719
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3794
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6766
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24919
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

8-80679800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679800
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679800
    reference: chr 8
allele count: 2
allele frequency: 3.329781566329249e-5
allele num: 60064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.196C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.89+10C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.210+10C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.89+10C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.283+10C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10895
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

8-80679817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679817
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679817
    reference: chr 8
allele count: 1
allele frequency: 1.335969646769625e-5
allele num: 74852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.276G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.203G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.179G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.82G>A
  hgvsp: ENSP00000346761.3:p.Glu28Lys
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.82G>A
  hgvsp: ENSP00000338272.5:p.Glu28Lys
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu28Lys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

8-80679822-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679822
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679822
    reference: chr 8
allele count: 2
allele frequency: 2.548874671832386e-5
allele num: 78466
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.77C>T
  hgvsp: ENSP00000338272.5:p.Ala26Val
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.174C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.271C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.198C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.77C>T
  hgvsp: ENSP00000346761.3:p.Ala26Val
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25408
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala26Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

8-80679822-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679822
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679822
    reference: chr 8
allele count: 2
allele frequency: 2.548874671832386e-5
allele num: 78466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.198C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.271C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.77C>G
  hgvsp: ENSP00000338272.5:p.Ala26Gly
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.77C>G
  hgvsp: ENSP00000346761.3:p.Ala26Gly
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.174C>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25408
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala26Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

8-80679830-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679830
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679830
    reference: chr 8
allele count: 3
allele frequency: 3.642898775986012e-5
allele num: 82352
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.69G>C
  hgvsp: ENSP00000338272.5:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.263G>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.190G>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.69G>C
  hgvsp: ENSP00000346761.3:p.Lys23Asn
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.166G>C
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27161
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29182
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20475
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys23Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

8-80679831-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679831
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679831
    reference: chr 8
allele count: 1
allele frequency: 1.208254796771543e-5
allele num: 82764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.189A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.68A>G
  hgvsp: ENSP00000338272.5:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.262A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.68A>G
  hgvsp: ENSP00000346761.3:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.165A>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 27343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys23Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS

8-80679842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679842
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679842
    reference: chr 8
allele count: 1
allele frequency: 1.194914444125801e-5
allele num: 83688
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.57C>T
  hgvsp: ENST00000337919.5:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.57C>T
  hgvsp: ENST00000354724.3:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.154C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.178C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.251C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile19Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

8-80679843-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679843
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679843
    reference: chr 8
allele count: 1
allele frequency: 1.193944314437175e-5
allele num: 83756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.153T>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.56T>A
  hgvsp: ENSP00000346761.3:p.Ile19Asn
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.250T>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.56T>A
  hgvsp: ENSP00000338272.5:p.Ile19Asn
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.177T>A
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17754
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile19Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

8-80679857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679857
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679857
    reference: chr 8
allele count: 1
allele frequency: 1.227686792545486e-5
allele num: 81454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.163G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.42G>A
  hgvsp: ENST00000337919.5:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.42G>A
  hgvsp: ENST00000354724.3:c.42G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.139G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.236G>A
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22914
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu14Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD

8-80679866-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679866
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679866
    reference: chr 8
allele count: 9
allele frequency: 1.159375483073118e-4
allele num: 77628
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.33G>C
  hgvsp: ENST00000337919.5:c.33G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.227G>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.33G>C
  hgvsp: ENST00000354724.3:c.33G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.154G>C
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.130G>C
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19141
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19948
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser11Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-80679867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679867
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679867
    reference: chr 8
allele count: 1
allele frequency: 1.296714126403693e-5
allele num: 77118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.226C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.32C>T
  hgvsp: ENSP00000338272.5:p.Ser11Leu
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.129C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.153C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.32C>T
  hgvsp: ENSP00000346761.3:p.Ser11Leu
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26531
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser11Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

8-80679869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679869
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679869
    reference: chr 8
allele count: 3
allele frequency: 3.947056811304371e-5
allele num: 76006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.151C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.30C>T
  hgvsp: ENST00000354724.3:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.30C>T
  hgvsp: ENST00000337919.5:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.224C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.127C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17270
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ser10Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/8-80679873-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679873
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679873
    reference: chr 8
allele count: 1
allele frequency: 1.380490902564952e-5
allele num: 72438
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.123G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.26G>T
  hgvsp: ENSP00000346761.3:p.Ser9Ile
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.26G>T
  hgvsp: ENSP00000338272.5:p.Ser9Ile
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.147G>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.220G>T
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13845
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser9Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS

8-80679878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679878
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679878
    reference: chr 8
allele count: 3
allele frequency: 4.399214007097399e-5
allele num: 68194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.142G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.21G>A
  hgvsp: ENST00000337919.5:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.118G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.21G>A
  hgvsp: ENST00000354724.3:c.21G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.215G>A
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22920
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu7Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-80679881-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679881
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679881
    reference: chr 8
allele count: 110
allele frequency: 1.666919230186392e-3
allele num: 65990
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.115C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.18C>G
  hgvsp: ENST00000354724.3:c.18C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.139C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.18C>G
  hgvsp: ENST00000337919.5:c.18C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.212C>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 1.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 9473
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23322
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2101
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  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 595
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Pro6Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-80679884-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679884
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679884
    reference: chr 8
allele count: 1
allele frequency: 1.572821642025794e-5
allele num: 63580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.209C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.15C>A
  hgvsp: ENSP00000346761.3:p.His5Gln
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.112C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.15C>A
  hgvsp: ENSP00000338272.5:p.His5Gln
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.136C>A
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23937
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32928
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His5Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

8-80679898-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679898
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679898
    reference: chr 8
allele count: 3
allele frequency: 5.418683621125641e-5
allele num: 55364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.1A>G
  hgvsp: ENSP00000346761.3:p.Met1?
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.1A>G
  hgvsp: ENSP00000338272.5:p.Met1?
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.122A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.98A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.195A>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15594
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8125
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6353
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ

8-80679902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679902
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679902
    reference: chr 8
allele count: 1
allele frequency: 1.947343823025393e-5
allele num: 51352
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.-4C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.-4C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.118C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.191C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.94C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15190
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10033
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

8-80679909-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679909
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679909
    reference: chr 8
allele count: 1
allele frequency: 2.238939638187354e-5
allele num: 44664
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.-11A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.-11A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.87A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.184A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.111A>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13521
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12679
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
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genotype quality: GenotypeQuality
  all individuals: 713
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 27466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
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genotype quality: GenotypeQuality
  all individuals: 13424
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 585
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genotype quality: GenotypeQuality
  all individuals: 240
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

8-80679909-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679909
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679908
    reference: chr 8
allele count: 17
allele frequency: 3.806197384918503e-4
allele num: 44664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.86delC
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.-12delC
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.183delC
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.-12delC
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.110delC
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13521
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24215
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 12679
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27466
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TG
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

8-80679911-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679911
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679911
    reference: chr 8
allele count: 5
allele frequency: 1.121931517300184e-4
allele num: 44566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.-13C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.182C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.109C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.85C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.-13C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13285
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24469
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum

8-80679912-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679912
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679912
    reference: chr 8
allele count: 1
allele frequency: 2.242152466367713e-5
allele num: 44600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.-14C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.-14C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.181C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.108C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.84C>A
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12877
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13644
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

8-80679916-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679916
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679916
    reference: chr 8
allele count: 1
allele frequency: 2.290111299409151e-5
allele num: 43666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.80A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.104A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.-18A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.-18A>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.177A>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14435
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

8-80679921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679921
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679921
    reference: chr 8
allele count: 3
allele frequency: 7.76196636481242e-5
allele num: 38650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.75C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.-23C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.-23C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.172C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.99C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17262
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22716
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

8-80679923-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679923
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679923
    reference: chr 8
allele count: 4
allele frequency: 1.080964220084315e-4
allele num: 37004
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.73C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.170C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.-25C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.97C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.-25C>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22460
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19192
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21795
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-80679925-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679925
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679925
    reference: chr 8
allele count: 2
allele frequency: 5.786367318597385e-5
allele num: 34564
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.-27C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.-27C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.95C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.168C>G
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.71C>G
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3712
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20068
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

8-80679927-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679927
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679927
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 34634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.166C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.-29C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.69C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.-29C>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.93C>A
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22479
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20309
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20325
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

8-80679933-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679933
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679933
    reference: chr 8
allele count: 3
allele frequency: 1.037416142195173e-4
allele num: 28918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.87C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.160C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.-35C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.63C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.-35C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22808
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6656
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21902
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5851
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-80679935-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679935
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679935
    reference: chr 8
allele count: 1
allele frequency: 3.620564808110065e-5
allele num: 27620
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.-37C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.-37C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.85C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.61C>T
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.158C>T
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4805
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21986
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13590
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-80679937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80679937
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 80679937
    reference: chr 8
allele count: 1
allele frequency: 3.691126531817511e-5
allele num: 27092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000523531
  gene symbol: HEY1
  hgvsc: ENST00000523531.1:n.156G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000338272
  ensembl transcript: ENST00000337919
  gene symbol: HEY1
  hgvsc: ENST00000337919.5:c.-39G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000164683
  ensembl protein: ENSP00000346761
  ensembl transcript: ENST00000354724
  gene symbol: HEY1
  hgvsc: ENST00000354724.3:c.-39G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000519075
  gene symbol: HEY1
  hgvsc: ENST00000519075.1:n.59G>A
  variant of: http://identifiers.org/hgnc/4880
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164683
  ensembl transcript: ENST00000521111
  gene symbol: HEY1
  hgvsc: ENST00000521111.1:n.83G>A
  variant of: http://identifiers.org/hgnc/4880
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23230
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21838
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4706
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22087
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6492
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

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

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4186
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6442
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3732
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5524
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.057e0

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

QD
type: SiteQuality
SIO_000300: 1.615e1

DP
type: SiteQuality
SIO_000300: 2.102271e6

FS
type: SiteQuality
SIO_000300: 1.836e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6016
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3031
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3732
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.99e0

QD
type: SiteQuality
SIO_000300: 1.774e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.956e0

DP
type: SiteQuality
SIO_000300: 2.101798e6

MQRankSum
type: SiteQuality
SIO_000300: 6.41e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-1

GenotypeQuality
all individuals: 185
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6018
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49829064955317e-5
allele num: 66692
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.101945e6

MQRankSum
type: SiteQuality
SIO_000300: -9.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.351e1

VQSLOD
type: SiteQuality
SIO_000300: -3.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

FS
type: SiteQuality
SIO_000300: 1.0928e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3032
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19055
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6034
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.101339e6

FS
type: SiteQuality
SIO_000300: 4.8862e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQ
type: SiteQuality
SIO_000300: 4.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.837e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.223e0

VQSLOD
type: SiteQuality
SIO_000300: -6.976e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e0

QD
type: SiteQuality
SIO_000300: 6.1e-1

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4190
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5538
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3032
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19056
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 204
bin: 3.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.498275396658768e-5
allele num: 66682
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.45e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.101723e6

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.665e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

FS
type: SiteQuality
SIO_000300: 1.145e0

GenotypeQuality
all individuals: 3742
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19057
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6039
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GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.621e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.77e0

DP
type: SiteQuality
SIO_000300: 2.101989e6

FS
type: SiteQuality
SIO_000300: 4.122e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.64e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

QD
type: SiteQuality
SIO_000300: 1.165e1

MQ
type: SiteQuality
SIO_000300: 5.365e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 4.211e0

MQRankSum
type: SiteQuality
SIO_000300: -7.252e0

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 4.137528e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

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

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

South Asian
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allele count: 7
allele frequency: 4.241396025206011e-4
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 4.137025e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e0

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

QD
type: SiteQuality
SIO_000300: 1.583e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.29e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: -1.044e0

VQSLOD
type: SiteQuality
SIO_000300: -1.259e0

DP
type: SiteQuality
SIO_000300: 4.136878e6

QD
type: SiteQuality
SIO_000300: 1.369e1

FS
type: SiteQuality
SIO_000300: 9.967000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.63e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.367e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.168e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 4.137096e6

FS
type: SiteQuality
SIO_000300: 6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 80
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
all individuals: 646
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GenotypeQuality
all individuals: 1965
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66528
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.314e0

DP
type: SiteQuality
SIO_000300: 4.137364e6

QD
type: SiteQuality
SIO_000300: 1.404e1

FS
type: SiteQuality
SIO_000300: 3.173e0

VQSLOD
type: SiteQuality
SIO_000300: 8.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.268e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 47308
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.937e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 4.137319e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.494e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10096
num of homozygotes: 0

South Asian
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allele frequency: 3.028834504482675e-4
allele num: 16508
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Other
type: Population
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allele num: 908
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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DP
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503216884132043e-5
allele num: 66524
num of homozygotes: 0

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

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

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

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

African
type: Population
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South Asian
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num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.857e1

DP
type: SiteQuality
SIO_000300: 4.137689e6

BaseQRankSum
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SIO_000300: 9.55e-1

FS
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SIO_000300: 3.319e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.504302304591131e-5
allele num: 66476
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
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allele num: 11562
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

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

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47304
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.975113569030219e-4
allele num: 10126
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66478
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 4.138251e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: 9.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
all individuals: 502
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 2.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.1378e6

VQSLOD
type: SiteQuality
SIO_000300: -1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.871e0

FS
type: SiteQuality
SIO_000300: 9.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.937e1

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

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

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

GenotypeQuality
all individuals: 502
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47304
bin: 9.75e1
variant carriers: 4

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

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

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

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

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

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

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

African
type: Population
allele count: 4
allele frequency: 3.94399526720568e-4
allele num: 10142
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.137786e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 3.258e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

QD
type: SiteQuality
SIO_000300: 1.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.533e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-2

GenotypeQuality
all individuals: 6918
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.204166415798663e-4
allele num: 66436
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 4.138189e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.8e0

GenotypeQuality
all individuals: 6904
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 933
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47303
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505525277769414e-5
allele num: 66422
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.858044164037855e-5
allele num: 10144
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 4.136536e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.498e1

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47302
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 936
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817961459217065e-4
allele num: 16502
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.59e0

QD
type: SiteQuality
SIO_000300: 1.16e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e0

VQSLOD
type: SiteQuality
SIO_000300: -1.79e-1

DP
type: SiteQuality
SIO_000300: 4.135766e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.151e0

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

GenotypeQuality
all individuals: 6838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.519161243673174e-5
allele num: 66384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 4.134879e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.143e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.72e-1

QD
type: SiteQuality
SIO_000300: 1.192e1

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.528e0

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

GenotypeQuality
all individuals: 925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.899029895070283e-5
allele num: 10102
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66366
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.388e1

MQ
type: SiteQuality
SIO_000300: 5.86e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.133765e6

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.44e-1

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

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

GenotypeQuality
all individuals: 925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47301
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66356
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 4.133397e6

MQ
type: SiteQuality
SIO_000300: 5.921e1

QD
type: SiteQuality
SIO_000300: 1.326e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.699e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

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

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47302
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015772490123345e-5
allele num: 66318
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212709192335678e-4
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-1

FS
type: SiteQuality
SIO_000300: 1.254e0

QD
type: SiteQuality
SIO_000300: 1.318e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

DP
type: SiteQuality
SIO_000300: 4.132931e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.77e-1

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

GenotypeQuality
all individuals: 501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47301
bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.203e0

QD
type: SiteQuality
SIO_000300: 1.425e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 1.198e0

VQSLOD
type: SiteQuality
SIO_000300: -1.066e0

DP
type: SiteQuality
SIO_000300: 4.13231e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 73
bin: 7.5e0
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508386629660915e-5
allele num: 66296
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.59e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.365e1

DP
type: SiteQuality
SIO_000300: 4.131338e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

VQSLOD
type: SiteQuality
SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
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South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
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SIO_000300: 1.81e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 4.127916e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.158e0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

FS
type: SiteQuality
SIO_000300: 3.45e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

QD
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SIO_000300: 1.565e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 887
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66168
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.298e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66092
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

DP
type: SiteQuality
SIO_000300: 4.123653e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.697e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6096
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.003009027081244e-4
allele num: 9970
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026268006294638e-5
allele num: 66088
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.379e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.709e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

African
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allele frequency: 1.003210272873194e-4
allele num: 9968
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.765e1

FS
type: SiteQuality
SIO_000300: 2.245e0

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

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

African
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allele frequency: 2.048340843916428e-4
allele num: 9764
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65676
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 4.106525e6

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65914
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European (Finnish)
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African
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Latino
type: Population
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allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 8.673026886383348e-5
allele num: 11530
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African
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 65698
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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QD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47335
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.227425582264292e-5
allele num: 16058
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.182e0

FS
type: SiteQuality
SIO_000300: 3.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 4.045669e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 9.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47334
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1123
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026061974143238e-4
allele num: 9746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15954
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -3.241e0

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

QD
type: SiteQuality
SIO_000300: 2.14e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.635999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.044948e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.582e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

GenotypeQuality
all individuals: 3615
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1780
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

VQSLOD
type: SiteQuality
SIO_000300: 5.24e0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

DP
type: SiteQuality
SIO_000300: 6.63806e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.27e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 554
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 561
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2754
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4738
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3854
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

DP
type: SiteQuality
SIO_000300: 6.69463e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 776
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
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variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 421
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2720
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.885999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.81262e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

QD
type: SiteQuality
SIO_000300: 6.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
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variant carriers: 0

GenotypeQuality
all individuals: 23274
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 6.75e1
variant carriers: 1

African
type: Population
allele count: 5
allele frequency: 1.336898395721925e-3
allele num: 3740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1660
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.53e-1

DP
type: SiteQuality
SIO_000300: 6.96193e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

GenotypeQuality
all individuals: 359
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
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variant carriers: 0

GenotypeQuality
all individuals: 2203
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
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variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1686
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31138
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

QD
type: SiteQuality
SIO_000300: 1.558e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.351e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

DP
type: SiteQuality
SIO_000300: 7.2876e5

GenotypeQuality
all individuals: 1084
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
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variant carriers: 0

GenotypeQuality
all individuals: 188
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variant carriers: 0

GenotypeQuality
all individuals: 391
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.905279319711823e-5
allele num: 33868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4282
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1916
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

DP
type: SiteQuality
SIO_000300: 8.01935e5

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

FS
type: SiteQuality
SIO_000300: 1.447e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 429
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 238
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GenotypeQuality
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GenotypeQuality
all individuals: 644
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2740
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.989572096368213e-5
allele num: 11124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7694
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

QD
type: SiteQuality
SIO_000300: 2.967e1

FS
type: SiteQuality
SIO_000300: 2.966e0

VQSLOD
type: SiteQuality
SIO_000300: -1.606e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.626e0

DP
type: SiteQuality
SIO_000300: 9.80132e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.24e-1

GenotypeQuality
all individuals: 21671
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
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variant carriers: 0

GenotypeQuality
all individuals: 371
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 27345
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variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44336
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.35795836131632e-4
allele num: 2978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.226692836113837e-4
allele num: 8152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.925e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

FS
type: SiteQuality
SIO_000300: 7.929e0

DP
type: SiteQuality
SIO_000300: 1.020992e6

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 4.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 646
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.511006856730422e-5
allele num: 44336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.020992e6

FS
type: SiteQuality
SIO_000300: 7.929e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

QD
type: SiteQuality
SIO_000300: 4.93e0

VQSLOD
type: SiteQuality
SIO_000300: -1.925e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.63e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 943
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GenotypeQuality
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GenotypeQuality
all individuals: 438
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variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.444960041247745e-5
allele num: 46548
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

QD
type: SiteQuality
SIO_000300: 8.34e0

FS
type: SiteQuality
SIO_000300: 1.907e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

DP
type: SiteQuality
SIO_000300: 1.051471e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

GenotypeQuality
all individuals: 20410
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 217
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.578282828282828e-4
allele num: 6336
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5588
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

DP
type: SiteQuality
SIO_000300: 1.054258e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.21e0

VQSLOD
type: SiteQuality
SIO_000300: -2.728e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 474
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3308
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.114701404161732e-5
allele num: 47288
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

FS
type: SiteQuality
SIO_000300: 5.444e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 4.14e-1

DP
type: SiteQuality
SIO_000300: 1.062454e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.507742045261188e-5
allele num: 11754
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3306
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47340
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQ
type: SiteQuality
SIO_000300: 5.855e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.871e0

QD
type: SiteQuality
SIO_000300: 8.15e0

FS
type: SiteQuality
SIO_000300: 4.479e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

DP
type: SiteQuality
SIO_000300: 1.060956e6

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

GenotypeQuality
all individuals: 420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.174858634188778e-5
allele num: 45980
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3216
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

FS
type: SiteQuality
SIO_000300: 4.036e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.373e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

DP
type: SiteQuality
SIO_000300: 1.030718e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

QD
type: SiteQuality
SIO_000300: 9.98e0

GenotypeQuality
all individuals: 26010
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 1.165199378560332e-3
allele num: 7724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.84848e5

FS
type: SiteQuality
SIO_000300: 2.442e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.7e-3

QD
type: SiteQuality
SIO_000300: 8.550000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 2.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.298956273851671e-5
allele num: 43498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.231e0

FS
type: SiteQuality
SIO_000300: 1.721e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.813e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 9.78068e5

QD
type: SiteQuality
SIO_000300: 7.54e0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2916
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.65016501650165e-4
allele num: 6060
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42868
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.69323996768112e-4
allele num: 7426
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.56e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.76e0

FS
type: SiteQuality
SIO_000300: 2.396e0

DP
type: SiteQuality
SIO_000300: 9.59967e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2762
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.455313297976822e-5
allele num: 40728
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
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Latino
type: Population
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allele frequency: 0.0e0
allele num: 6944
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.49e-1

BaseQRankSum
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.0813e5

MQRankSum
type: SiteQuality
SIO_000300: 7.65e-1

FS
type: SiteQuality
SIO_000300: 1.893e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5546
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.618486514794449e-5
allele num: 38190
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.86811133943583e-4
allele num: 10706
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.49215e5

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 2

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele num: 476
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2362
num of homozygotes: 0

Latino
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allele frequency: 8.067118425298483e-4
allele num: 6198
num of homozygotes: 0

African
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allele count: 103
allele frequency: 1.898967551622419e-2
allele num: 5424
num of homozygotes: 0

South Asian
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allele num: 10528
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.818e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2248
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.556237218813906e-4
allele num: 3912
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5874
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

FS
type: SiteQuality
SIO_000300: 1.063e0

VQSLOD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

DP
type: SiteQuality
SIO_000300: 7.94549e5

QD
type: SiteQuality
SIO_000300: 1.132e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1691
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.253937264089548e-5
allele num: 30732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4646
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.102535832414553e-3
allele num: 1814
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4768
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

QD
type: SiteQuality
SIO_000300: 1.515e1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

DP
type: SiteQuality
SIO_000300: 7.04011e5

FS
type: SiteQuality
SIO_000300: 2.595e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30989
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.532570298148933e-5
allele num: 28308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2892
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4344
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.23e0

DP
type: SiteQuality
SIO_000300: 6.73143e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.793e-1

FS
type: SiteQuality
SIO_000300: 2.038e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2238
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.133939644481191e-5
allele num: 24190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2400
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 6.30608e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

FS
type: SiteQuality
SIO_000300: 2.997e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 4194
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 381
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 655
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 150
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1212
bin: 6.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 1.155401502021953e-3
allele num: 3462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 3.164556962025316e-3
allele num: 3792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.133939644481191e-5
allele num: 24190
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 2.997e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.149e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 6.30608e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

GenotypeQuality
all individuals: 2141
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4339
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9158
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.240694789081886e-4
allele num: 24180
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 5.333333333333334e-4
allele num: 3750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.69e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.27906e5

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 481
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.127455836222553e-5
allele num: 24228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.67e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.513e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.482e0

DP
type: SiteQuality
SIO_000300: 6.26437e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.694e0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1212
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.228329809725158e-5
allele num: 23650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.73e-2

FS
type: SiteQuality
SIO_000300: 1.475e0

QD
type: SiteQuality
SIO_000300: 6.88e0

VQSLOD
type: SiteQuality
SIO_000300: -1.77e0

MQ
type: SiteQuality
SIO_000300: 5.77e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 6.17479e5

GenotypeQuality
all individuals: 460
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2756
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.871395167575994e-5
allele num: 20528
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.266032177656923e-4
allele num: 8826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

MQRankSum
type: SiteQuality
SIO_000300: -5.13e-1

DP
type: SiteQuality
SIO_000300: 5.78958e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.577e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

QD
type: SiteQuality
SIO_000300: 1.083e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.88e-2

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3732
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 648
bin: 9.75e1
variant carriers: 6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3298
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.993610223642172e-4
allele num: 2504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 1.740139211136891e-3
allele num: 1724
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.091e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.361e1

VQSLOD
type: SiteQuality
SIO_000300: 7.48e-1

DP
type: SiteQuality
SIO_000300: 5.66729e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.62e-2

GenotypeQuality
all individuals: 1136
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3120
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.322340919647004e-4
allele num: 8612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17988
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.85e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.332e0

QD
type: SiteQuality
SIO_000300: 1.106e1

FS
type: SiteQuality
SIO_000300: 4.413e0

VQSLOD
type: SiteQuality
SIO_000300: -7.968e-1

DP
type: SiteQuality
SIO_000300: 5.53213e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e0

GenotypeQuality
all individuals: 499
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
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variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.82e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.223e-1

QD
type: SiteQuality
SIO_000300: 8.35e0

DP
type: SiteQuality
SIO_000300: 5.51253e5

GenotypeQuality
all individuals: 14978
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1161
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1164
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.093294460641399e-3
allele num: 2744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1466
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 4.434e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.32e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.666e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 5.14702e5

QD
type: SiteQuality
SIO_000300: 1.032e1

GenotypeQuality
all individuals: 6313
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2890
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.397544015386891e-5
allele num: 13518
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.06526e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.207e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
SIO_000300: 9.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeQuality
all individuals: 638
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13138
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.213297743266198e-4
allele num: 8242
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.121e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.51e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 5.02797e5