8-27320461-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320461
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320461
    reference: chr 8
allele count: 2
allele frequency: 1.658292290599141e-5
allele num: 120606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*866+35G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1639+35G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1464+35G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1419+35G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1190G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1464+35G>C
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

8-27320467-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320467
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320467
    reference: chr 8
allele count: 1
allele frequency: 8.288300235387727e-6
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1419+29C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*866+29C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1639+29C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1464+29C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1196C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1464+29C>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5709
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

8-27320468-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320468
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320468
    reference: chr 8
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1197C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1639+28C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1464+28C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1419+28C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*866+28C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1464+28C>G
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 9523
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 141
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5708
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

8-27320471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320471
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320471
    reference: chr 8
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1464+25C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1464+25C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*866+25C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1639+25C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1200C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1419+25C>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5708
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

8-27320471-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320471
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320471
    reference: chr 8
allele count: 3
allele frequency: 2.48616037391852e-5
allele num: 120668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*866+25C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1464+25C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1464+25C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1200C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1419+25C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1639+25C>G
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

8-27320473-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320473
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320473
    reference: chr 8
allele count: 6
allele frequency: 4.971991116709205e-5
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1202G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1464+23G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*866+23G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1639+23G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1464+23G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1419+23G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28132
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5707
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

8-27320474-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320474
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320474
    reference: chr 8
allele count: 5
allele frequency: 4.143188597944978e-5
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1639+22C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1464+22C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1419+22C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1464+22C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1203C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*866+22C>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

8-27320476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320476
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320476
    reference: chr 8
allele count: 14
allele frequency: 1.159842924129704e-4
allele num: 120706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1205G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1639+20G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*866+20G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1419+20G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1464+20G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1464+20G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5699
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/8-27320486-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320486
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320486
    reference: chr 8
allele count: 2
allele frequency: 1.655875875544369e-5
allele num: 120782
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1639+10G>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1464+10G>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1464+10G>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1215G>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*866+10G>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1419+10G>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5685
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

8-27320487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320487
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320487
    reference: chr 8
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1639+9G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1464+9G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1464+9G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1216G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1419+9G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*866+9G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/8-27320487-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320487
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320485
    reference: chr 8
allele count: 5
allele frequency: 4.139415514529349e-5
allele num: 120790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1419+7_1419+8delTG
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1464+7_1464+8delTG
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1639+7_1639+8delTG
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1464+7_1464+8delTG
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1218_290-1217delTG
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*866+7_*866+8delTG
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1464+7_1464+8delTG
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: CCA
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

8-27320491-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320491
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320491
    reference: chr 8
allele count: 2
allele frequency: 1.655519502019734e-5
allele num: 120808
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1220G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*866+5G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1464+5G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1464+5G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1639+5G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1419+5G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1464+5G>A
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

8-27320509-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320509
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320509
    reference: chr 8
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1451A>T
  hgvsp: ENSP00000385026.1:p.Asp484Val
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1238A>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*853A>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1626A>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1451A>T
  hgvsp: ENSP00000429616.1:p.Asp484Val
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1406A>T
  hgvsp: ENSP00000240132.2:p.Asp469Val
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5676
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp484Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-27320510-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320510
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320510
    reference: chr 8
allele count: 1
allele frequency: 8.265829062654984e-6
allele num: 120980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1625G>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1450G>T
  hgvsp: ENSP00000385026.1:p.Asp484Tyr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1450G>T
  hgvsp: ENSP00000429616.1:p.Asp484Tyr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*852G>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1405G>T
  hgvsp: ENSP00000240132.2:p.Asp469Tyr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1239G>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5676
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp484Tyr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum

8-27320513-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320513
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320513
    reference: chr 8
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1402G>A
  hgvsp: ENSP00000240132.2:p.Glu468Lys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1447G>A
  hgvsp: ENSP00000385026.1:p.Glu483Lys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1447G>A
  hgvsp: ENSP00000429616.1:p.Glu483Lys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*849G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1242G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1622G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2518
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu483Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ

8-27320515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320515
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320515
    reference: chr 8
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1445C>T
  hgvsp: ENSP00000385026.1:p.Ser482Phe
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1244C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1400C>T
  hgvsp: ENSP00000240132.2:p.Ser467Phe
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*847C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1620C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1445C>T
  hgvsp: ENSP00000429616.1:p.Ser482Phe
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser482Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

8-27320518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320518
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320518
    reference: chr 8
allele count: 1
allele frequency: 8.263506701703935e-6
allele num: 121014
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1442G>A
  hgvsp: ENSP00000385026.1:p.Arg481Gln
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1397G>A
  hgvsp: ENSP00000240132.2:p.Arg466Gln
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1617G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1247G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1442G>A
  hgvsp: ENSP00000429616.1:p.Arg481Gln
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*844G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg481Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

8-27320519-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320519
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320519
    reference: chr 8
allele count: 3
allele frequency: 2.478806206930742e-5
allele num: 121026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1396C>T
  hgvsp: ENSP00000240132.2:p.Arg466Trp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1441C>T
  hgvsp: ENSP00000385026.1:p.Arg481Trp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*843C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1248C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1441C>T
  hgvsp: ENSP00000429616.1:p.Arg481Trp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1616C>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5674
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg481Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

8-27320523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320523
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320523
    reference: chr 8
allele count: 38
allele frequency: 3.138939368907979e-4
allele num: 121060
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1252C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1437C>T
  hgvsp: ENST00000520933.2:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1612C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*839C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1437C>T
  hgvsp: ENST00000407991.1:c.1437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1392C>T
  hgvsp: ENST00000240132.2:c.1392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His479His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

8-27320526-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320526
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320526
    reference: chr 8
allele count: 409
allele frequency: 3.378099344202719e-3
allele num: 121074
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1434C>A
  hgvsp: ENSP00000429616.1:p.Asp478Glu
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1609C>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1389C>A
  hgvsp: ENSP00000240132.2:p.Asp463Glu
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1255C>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1434C>A
  hgvsp: ENSP00000385026.1:p.Asp478Glu
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*836C>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13237
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 28418
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 9.75e1
  variant carriers: 350
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp478Glu
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

8-27320528-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320528
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320528
    reference: chr 8
allele count: 9
allele frequency: 7.433102081268583e-5
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1387G>A
  hgvsp: ENSP00000240132.2:p.Asp463Asn
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*834G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1432G>A
  hgvsp: ENSP00000385026.1:p.Asp478Asn
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1607G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1432G>A
  hgvsp: ENSP00000429616.1:p.Asp478Asn
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1257G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8795
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5307
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Asp478Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

8-27320529-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320529
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320529
    reference: chr 8
allele count: 4
allele frequency: 3.303491790822899e-5
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1258C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1386C>T
  hgvsp: ENST00000240132.2:c.1386C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1431C>T
  hgvsp: ENST00000520933.2:c.1431C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1606C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1431C>T
  hgvsp: ENST00000407991.1:c.1431C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*833C>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9712
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala477Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

8-27320533-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320533
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320533
    reference: chr 8
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1427T>C
  hgvsp: ENSP00000429616.1:p.Ile476Thr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1427T>C
  hgvsp: ENSP00000385026.1:p.Ile476Thr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1262T>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*829T>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1382T>C
  hgvsp: ENSP00000240132.2:p.Ile461Thr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1602T>C
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5297
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile476Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

8-27320536-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320536
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320536
    reference: chr 8
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1379A>G
  hgvsp: ENSP00000240132.2:p.Tyr460Cys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*826A>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1424A>G
  hgvsp: ENSP00000385026.1:p.Tyr475Cys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1424A>G
  hgvsp: ENSP00000429616.1:p.Tyr475Cys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1265A>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1599A>G
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5296
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr475Cys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

8-27320540-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320540
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320540
    reference: chr 8
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1375C>A
  hgvsp: ENSP00000240132.2:p.His459Asn
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1420C>A
  hgvsp: ENSP00000385026.1:p.His474Asn
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1595C>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1420C>A
  hgvsp: ENSP00000429616.1:p.His474Asn
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1269C>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*822C>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5298
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His474Asn
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-27320542-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320542
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320542
    reference: chr 8
allele count: 2
allele frequency: 1.651554938975045e-5
allele num: 121098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1373T>G
  hgvsp: ENSP00000240132.2:p.Val458Gly
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1418T>G
  hgvsp: ENSP00000429616.1:p.Val473Gly
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1418T>G
  hgvsp: ENSP00000385026.1:p.Val473Gly
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1593T>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*820T>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1271T>G
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37969
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5296
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val473Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-27320559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320559
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320559
    reference: chr 8
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1401G>A
  hgvsp: ENST00000407991.1:c.1401G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1288G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1401G>A
  hgvsp: ENST00000520933.2:c.1401G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*803G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1356G>A
  hgvsp: ENST00000240132.2:c.1356G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1576G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9640
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln467Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

8-27320567-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320567
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320567
    reference: chr 8
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1393C>G
  hgvsp: ENSP00000429616.1:p.His465Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1348C>G
  hgvsp: ENSP00000240132.2:p.His450Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1568C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*795C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1393C>G
  hgvsp: ENSP00000385026.1:p.His465Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1296C>G
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His465Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

8-27320579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320579
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320579
    reference: chr 8
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1381C>T
  hgvsp: ENST00000407991.1:c.1381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1308C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1556C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1381C>T
  hgvsp: ENST00000520933.2:c.1381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*783C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1336C>T
  hgvsp: ENST00000240132.2:c.1336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28492
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu461Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

8-27320582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320582
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320582
    reference: chr 8
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1311C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1553C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1378C>T
  hgvsp: ENST00000407991.1:c.1378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1333C>T
  hgvsp: ENST00000240132.2:c.1333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1378C>T
  hgvsp: ENST00000520933.2:c.1378C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*780C>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37954
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu460Leu
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: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

8-27320587-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320587
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320587
    reference: chr 8
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1373G>C
  hgvsp: ENSP00000429616.1:p.Gly458Ala
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*775G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1316G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1328G>C
  hgvsp: ENSP00000240132.2:p.Gly443Ala
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1548G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1373G>C
  hgvsp: ENSP00000385026.1:p.Gly458Ala
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37916
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5273
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly458Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

8-27320588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320588
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320588
    reference: chr 8
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1317G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1327G>A
  hgvsp: ENSP00000240132.2:p.Gly443Ser
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1372G>A
  hgvsp: ENSP00000429616.1:p.Gly458Ser
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*774G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1372G>A
  hgvsp: ENSP00000385026.1:p.Gly458Ser
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1547G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly458Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

8-27320589-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320589
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320589
    reference: chr 8
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1546G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1371G>C
  hgvsp: ENSP00000429616.1:p.Glu457Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1326G>C
  hgvsp: ENSP00000240132.2:p.Glu442Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*773G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1318G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1371G>C
  hgvsp: ENSP00000385026.1:p.Glu457Asp
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5269
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu457Asp
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum

8-27320591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320591
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320591
    reference: chr 8
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1369G>A
  hgvsp: ENSP00000429616.1:p.Glu457Lys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1369G>A
  hgvsp: ENSP00000385026.1:p.Glu457Lys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1320G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1324G>A
  hgvsp: ENSP00000240132.2:p.Glu442Lys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1544G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*771G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu457Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/8-27320595-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320595
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320595
    reference: chr 8
allele count: 1
allele frequency: 8.263779852904718e-6
allele num: 121010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1540G>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1320G>T
  hgvsp: ENST00000240132.2:c.1320G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*767G>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1324G>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1365G>T
  hgvsp: ENST00000520933.2:c.1365G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1365G>T
  hgvsp: ENST00000407991.1:c.1365G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38001
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu455Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/8-27320606-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320606
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320606
    reference: chr 8
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1529G>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1354G>T
  hgvsp: ENSP00000385026.1:p.Glu452Ter
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*756G>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1354G>T
  hgvsp: ENSP00000429616.1:p.Glu452Ter
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1309G>T
  hgvsp: ENSP00000240132.2:p.Glu437Ter
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1335G>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37960
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5262
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu452Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-27320608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320608
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320608
    reference: chr 8
allele count: 3
allele frequency: 2.481020195504391e-5
allele num: 120918
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*754C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1352C>T
  hgvsp: ENSP00000385026.1:p.Ala451Val
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1352C>T
  hgvsp: ENSP00000429616.1:p.Ala451Val
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1527C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1337C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1307C>T
  hgvsp: ENSP00000240132.2:p.Ala436Val
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5259
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala451Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-27320617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320617
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320617
    reference: chr 8
allele count: 13
allele frequency: 1.076889941847943e-4
allele num: 120718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1343G>A
  hgvsp: ENSP00000429616.1:p.Gly448Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1346G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1343G>A
  hgvsp: ENSP00000385026.1:p.Gly448Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1298G>A
  hgvsp: ENSP00000240132.2:p.Gly433Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*745G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1518G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 28252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37747
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly448Asp
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

8-27320625-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320625
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320625
    reference: chr 8
allele count: 5
allele frequency: 4.145524491758697e-5
allele num: 120612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*737G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1335G>C
  hgvsp: ENST00000520933.2:c.1335G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1354G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1290G>C
  hgvsp: ENST00000240132.2:c.1290G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1335G>C
  hgvsp: ENST00000407991.1:c.1335G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1510G>C
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5247
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Gly445Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

8-27320626-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320626
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320626
    reference: chr 8
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*736G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1355G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1289G>C
  hgvsp: ENSP00000240132.2:p.Gly430Ala
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1334G>C
  hgvsp: ENSP00000385026.1:p.Gly445Ala
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1509G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1334G>C
  hgvsp: ENSP00000429616.1:p.Gly445Ala
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5241
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly445Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

8-27320629-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320629
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320629
    reference: chr 8
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1331C>G
  hgvsp: ENSP00000429616.1:p.Ser444Cys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1358C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*733C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1286C>G
  hgvsp: ENSP00000240132.2:p.Ser429Cys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1331C>G
  hgvsp: ENSP00000385026.1:p.Ser444Cys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1506C>G
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28094
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser444Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

8-27320632-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320632
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320631
    reference: chr 8
allele count: 2
allele frequency: 1.661930165694438e-5
allele num: 120342
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1327delC
  hgvsp: ENSP00000385026.1:p.His443ThrfsTer47
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1327delC
  hgvsp: ENSP00000429616.1:p.His443ThrfsTer47
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1502delC
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*729delC
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1282delC
  hgvsp: ENSP00000240132.2:p.His428ThrfsTer47
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1362delC
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His443ThrfsTer47
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: TG
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-27320636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320636
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320636
    reference: chr 8
allele count: 2770
allele frequency: 2.308833580609132e-2
allele num: 119974
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1279C>T
  hgvsp: ENST00000240132.2:c.1279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1324C>T
  hgvsp: ENST00000407991.1:c.1324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*726C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1499C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1324C>T
  hgvsp: ENST00000520933.2:c.1324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1365C>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 8434
  bin: 2.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 637
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.25e1
  variant carriers: 178
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 3.75e1
  variant carriers: 107
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.25e1
  variant carriers: 193
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.75e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27760
  bin: 2.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 4.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 12959
  bin: 3.25e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 163
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 7.25e1
  variant carriers: 2
hgvs: p.Leu442Leu
num of homozygotes: 53
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

8-27320641-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320641
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320641
    reference: chr 8
allele count: 1
allele frequency: 8.362882183715796e-6
allele num: 119576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1494G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1274G>A
  hgvsp: ENSP00000240132.2:p.Gly425Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1370G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*721G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1319G>A
  hgvsp: ENSP00000429616.1:p.Gly440Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1319G>A
  hgvsp: ENSP00000385026.1:p.Gly440Asp
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly440Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

8-27320643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320643
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320643
    reference: chr 8
allele count: 5
allele frequency: 4.186062087672884e-5
allele num: 119444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1372C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1492C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*719C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1317C>T
  hgvsp: ENST00000520933.2:c.1317C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1272C>T
  hgvsp: ENST00000240132.2:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1317C>T
  hgvsp: ENST00000407991.1:c.1317C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His439His
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

8-27320658-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320658
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320658
    reference: chr 8
allele count: 1
allele frequency: 8.440100605999223e-6
allele num: 118482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1302C>T
  hgvsp: ENST00000520933.2:c.1302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1257C>T
  hgvsp: ENST00000240132.2:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1477C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*704C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1302C>T
  hgvsp: ENST00000407991.1:c.1302C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1387C>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8571
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly434Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

8-27320659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320659
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320659
    reference: chr 8
allele count: 10
allele frequency: 8.448943037226044e-5
allele num: 118358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1476G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1256G>A
  hgvsp: ENSP00000240132.2:p.Gly419Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1388G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*703G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1301G>A
  hgvsp: ENSP00000385026.1:p.Gly434Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1301G>A
  hgvsp: ENSP00000429616.1:p.Gly434Asp
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2175
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly434Asp
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

8-27320666-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320666
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320665
    reference: chr 8
allele count: 13
allele frequency: 1.103078437362115e-4
allele num: 117852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*695delC
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1396delC
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1248delC
  hgvsp: ENSP00000240132.2:p.Ser417LeufsTer58
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1293delC
  hgvsp: ENSP00000385026.1:p.Ser432LeufsTer58
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1293delC
  hgvsp: ENSP00000429616.1:p.Ser432LeufsTer58
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1468delC
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser432LeufsTer58
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: AG
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

8-27320668-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320668
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320668
    reference: chr 8
allele count: 1
allele frequency: 8.498342823149486e-6
allele num: 117670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1397C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1247C>T
  hgvsp: ENSP00000240132.2:p.Pro416Leu
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1292C>T
  hgvsp: ENSP00000385026.1:p.Pro431Leu
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1467C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1292C>T
  hgvsp: ENSP00000429616.1:p.Pro431Leu
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*694C>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro431Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

8-27320683-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320683
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320683
    reference: chr 8
allele count: 1
allele frequency: 8.575593859874796e-6
allele num: 116610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1452C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1277C>G
  hgvsp: ENSP00000385026.1:p.Ala426Gly
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1277C>G
  hgvsp: ENSP00000429616.1:p.Ala426Gly
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*679C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1412C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1232C>G
  hgvsp: ENSP00000240132.2:p.Ala411Gly
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala426Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

8-27320685-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320685
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320685
    reference: chr 8
allele count: 3
allele frequency: 2.5762129669386e-5
allele num: 116450
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1414T>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*677T>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1230T>A
  hgvsp: ENSP00000240132.2:p.Cys410Ter
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1275T>A
  hgvsp: ENSP00000385026.1:p.Cys425Ter
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1275T>A
  hgvsp: ENSP00000429616.1:p.Cys425Ter
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1450T>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12876
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3099
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys425Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

8-27320690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320690
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320690
    reference: chr 8
allele count: 1
allele frequency: 8.62976578815651e-6
allele num: 115878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1445G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*672G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1270G>A
  hgvsp: ENSP00000385026.1:p.Ala424Thr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1225G>A
  hgvsp: ENSP00000240132.2:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1419G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1270G>A
  hgvsp: ENSP00000429616.1:p.Ala424Thr
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9223
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala424Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

8-27320695-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320695
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320695
    reference: chr 8
allele count: 1
allele frequency: 8.653812869950501e-6
allele num: 115556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1220G>C
  hgvsp: ENSP00000240132.2:p.Arg407Thr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1424G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1265G>C
  hgvsp: ENSP00000385026.1:p.Arg422Thr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*667G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1265G>C
  hgvsp: ENSP00000429616.1:p.Arg422Thr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1440G>C
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg422Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

8-27320706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320706
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320706
    reference: chr 8
allele count: 1
allele frequency: 8.702159876081243e-6
allele num: 114914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*656G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1435G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1429G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1209G>A
  hgvsp: ENST00000240132.2:c.1209G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1254G>A
  hgvsp: ENST00000407991.1:c.1254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1254G>A
  hgvsp: ENST00000520933.2:c.1254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9198
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36069
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu418Glu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

8-27320708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320708
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320708
    reference: chr 8
allele count: 1
allele frequency: 8.716875871687587e-6
allele num: 114720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1427G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1252G>A
  hgvsp: ENSP00000385026.1:p.Glu418Lys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*654G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1437G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1207G>A
  hgvsp: ENSP00000240132.2:p.Glu403Lys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1252G>A
  hgvsp: ENSP00000429616.1:p.Glu418Lys
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu418Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

8-27320710-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320710
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320710
    reference: chr 8
allele count: 1
allele frequency: 8.723415391594117e-6
allele num: 114634
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1250T>C
  hgvsp: ENSP00000385026.1:p.Val417Ala
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*652T>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1205T>C
  hgvsp: ENSP00000240132.2:p.Val402Ala
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1250T>C
  hgvsp: ENSP00000429616.1:p.Val417Ala
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1425T>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1439T>C
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val417Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

8-27320712-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320712
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320712
    reference: chr 8
allele count: 1
allele frequency: 8.735608085678845e-6
allele num: 114474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1423G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*650G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1203G>C
  hgvsp: ENST00000240132.2:c.1203G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1441G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1248G>C
  hgvsp: ENST00000407991.1:c.1248G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1248G>C
  hgvsp: ENST00000520933.2:c.1248G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val416Val
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

8-27320715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320715
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320715
    reference: chr 8
allele count: 1
allele frequency: 8.737439930100481e-6
allele num: 114450
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1245G>A
  hgvsp: ENST00000520933.2:c.1245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1245G>A
  hgvsp: ENST00000407991.1:c.1245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1200G>A
  hgvsp: ENST00000240132.2:c.1200G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*647G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1420G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1444G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val415Val
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

8-27320724-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320724
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320724
    reference: chr 8
allele count: 1
allele frequency: 8.759175236059772e-6
allele num: 114166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1236G>C
  hgvsp: ENSP00000429616.1:p.Glu412Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1236G>C
  hgvsp: ENSP00000385026.1:p.Glu412Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1191G>C
  hgvsp: ENSP00000240132.2:p.Glu397Asp
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1453G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*638G>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1411G>C
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9163
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu412Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

8-27320724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320724
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320724
    reference: chr 8
allele count: 1
allele frequency: 8.759175236059772e-6
allele num: 114166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1236G>A
  hgvsp: ENST00000520933.2:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1411G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1191G>A
  hgvsp: ENST00000240132.2:c.1191G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1236G>A
  hgvsp: ENST00000407991.1:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1453G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*638G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu412Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

8-27320726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320726
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320726
    reference: chr 8
allele count: 66
allele frequency: 5.781359495444989e-4
allele num: 114160
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1189G>A
  hgvsp: ENSP00000240132.2:p.Glu397Lys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1409G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1234G>A
  hgvsp: ENSP00000385026.1:p.Glu412Lys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*636G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1234G>A
  hgvsp: ENSP00000429616.1:p.Glu412Lys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1455G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7970
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27075
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12813
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 36021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu412Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-27320737-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320737
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320737
    reference: chr 8
allele count: 2
allele frequency: 1.752234098475556e-5
allele num: 114140
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1223T>C
  hgvsp: ENSP00000385026.1:p.Val408Ala
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1466T>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*625T>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1223T>C
  hgvsp: ENSP00000429616.1:p.Val408Ala
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1398T>C
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1178T>C
  hgvsp: ENSP00000240132.2:p.Val393Ala
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val408Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

8-27320739-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320739
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320739
    reference: chr 8
allele count: 1
allele frequency: 8.759328685049578e-6
allele num: 114164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1221C>T
  hgvsp: ENST00000520933.2:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1468C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*623C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1396C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1176C>T
  hgvsp: ENST00000240132.2:c.1176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1221C>T
  hgvsp: ENST00000407991.1:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn407Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

8-27320740-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320740
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320740
    reference: chr 8
allele count: 1
allele frequency: 8.755034144633164e-6
allele num: 114220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1469A>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1220A>T
  hgvsp: ENSP00000385026.1:p.Asn407Ile
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*622A>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1395A>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1175A>T
  hgvsp: ENSP00000240132.2:p.Asn392Ile
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1220A>T
  hgvsp: ENSP00000429616.1:p.Asn407Ile
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn407Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

8-27320742-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320742
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320742
    reference: chr 8
allele count: 1
allele frequency: 8.754420982596212e-6
allele num: 114228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1218C>G
  hgvsp: ENSP00000429616.1:p.Ser406Arg
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1218C>G
  hgvsp: ENSP00000385026.1:p.Ser406Arg
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1173C>G
  hgvsp: ENSP00000240132.2:p.Ser391Arg
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*620C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1393C>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1471C>G
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser406Arg
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-27320746-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320746
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320746
    reference: chr 8
allele count: 8
allele frequency: 7.01397534587666e-5
allele num: 114058
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*616A>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1169A>G
  hgvsp: ENSP00000240132.2:p.Glu390Gly
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1389A>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1214A>G
  hgvsp: ENSP00000429616.1:p.Glu405Gly
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1214A>G
  hgvsp: ENSP00000385026.1:p.Glu405Gly
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1475A>G
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26968
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35703
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu405Gly
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

8-27320756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320756
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320756
    reference: chr 8
allele count: 1
allele frequency: 8.727374282173466e-6
allele num: 114582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1204C>T
  hgvsp: ENSP00000429616.1:p.His402Tyr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1485C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1379C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1159C>T
  hgvsp: ENSP00000240132.2:p.His387Tyr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1204C>T
  hgvsp: ENSP00000385026.1:p.His402Tyr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*606C>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36092
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His402Tyr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

8-27320758-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320758
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320758
    reference: chr 8
allele count: 3
allele frequency: 2.61802949646566e-5
allele num: 114590
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1202A>G
  hgvsp: ENSP00000385026.1:p.Tyr401Cys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1157A>G
  hgvsp: ENSP00000240132.2:p.Tyr386Cys
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1487A>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1377A>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*604A>G
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1202A>G
  hgvsp: ENSP00000429616.1:p.Tyr401Cys
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr401Cys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

8-27320762-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320762
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320762
    reference: chr 8
allele count: 5
allele frequency: 4.359121898484769e-5
allele num: 114702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1491T>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1198T>A
  hgvsp: ENSP00000385026.1:p.Ser400Thr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*600T>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1153T>A
  hgvsp: ENSP00000240132.2:p.Ser385Thr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1198T>A
  hgvsp: ENSP00000429616.1:p.Ser400Thr
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1373T>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36126
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser400Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

8-27320778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320778
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320778
    reference: chr 8
allele count: 1
allele frequency: 8.666412451901412e-6
allele num: 115388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1182C>T
  hgvsp: ENST00000407991.1:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1507C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*584C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1357C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1182C>T
  hgvsp: ENST00000520933.2:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1137C>T
  hgvsp: ENST00000240132.2:c.1137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg394Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

8-27320779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320779
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320779
    reference: chr 8
allele count: 1
allele frequency: 8.674983083782986e-6
allele num: 115274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1181G>A
  hgvsp: ENSP00000429616.1:p.Arg394His
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*583G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1181G>A
  hgvsp: ENSP00000385026.1:p.Arg394His
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1508G>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1136G>A
  hgvsp: ENSP00000240132.2:p.Arg379His
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1356G>A
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36044
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg394His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

8-27320784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320784
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320784
    reference: chr 8
allele count: 9
allele frequency: 7.757818156742405e-5
allele num: 116012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1131C>T
  hgvsp: ENST00000240132.2:c.1131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1176C>T
  hgvsp: ENST00000407991.1:c.1176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*578C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1351C>T
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1176C>T
  hgvsp: ENST00000520933.2:c.1176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1513C>T
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro392Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

8-27320784-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27320784
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 27320784
    reference: chr 8
allele count: 1
allele frequency: 8.619797951936006e-6
allele num: 116012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000523529
  gene symbol: CHRNA2
  hgvsc: ENST00000523529.1:n.1351C>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000430612
  ensembl transcript: ENST00000523695
  gene symbol: CHRNA2
  hgvsc: ENST00000523695.1:c.*578C>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000120903
  ensembl transcript: ENST00000520600
  gene symbol: CHRNA2
  hgvsc: ENST00000520600.1:n.290-1513C>A
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000385026
  ensembl transcript: ENST00000407991
  gene symbol: CHRNA2
  hgvsc: ENST00000407991.1:c.1176C>A
  hgvsp: ENST00000407991.1:c.1176C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000240132
  ensembl transcript: ENST00000240132
  gene symbol: CHRNA2
  hgvsc: ENST00000240132.2:c.1131C>A
  hgvsp: ENST00000240132.2:c.1131C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000120903
  ensembl protein: ENSP00000429616
  ensembl transcript: ENST00000520933
  gene symbol: CHRNA2
  hgvsc: ENST00000520933.2:c.1176C>A
  hgvsp: ENST00000520933.2:c.1176C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1956
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Pro392Pro
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5711
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 36829
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9504
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.024986387561256e-5
allele num: 66116
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 1.2143e1

DP
type: SiteQuality
SIO_000300: 1.969125e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.969e0

QD
type: SiteQuality
SIO_000300: 9.99e0

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.515e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2275
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9519
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66146
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.971055e6

QD
type: SiteQuality
SIO_000300: 9.56e0

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 1.5414e1

VQSLOD
type: SiteQuality
SIO_000300: -2.137e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.491e0

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37165
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511761504505049e-5
allele num: 66148
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.267e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

DP
type: SiteQuality
SIO_000300: 1.971475e6

FS
type: SiteQuality
SIO_000300: 3.624e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.146e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.237e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

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

GenotypeQuality
all individuals: 390
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2280
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2916e1

VQSLOD
type: SiteQuality
SIO_000300: -2.739e0

QD
type: SiteQuality
SIO_000300: 9.34e0

DP
type: SiteQuality
SIO_000300: 1.972489e6

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.241e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

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

GenotypeQuality
all individuals: 5708
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2280
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37235
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819284414796847e-4
allele num: 16490
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.972489e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.241e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

FS
type: SiteQuality
SIO_000300: 1.2916e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

QD
type: SiteQuality
SIO_000300: 9.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.739e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2278
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9549
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
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: 5
allele frequency: 7.557436517533252e-5
allele num: 66160
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.12e0

DP
type: SiteQuality
SIO_000300: 1.972895e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

QD
type: SiteQuality
SIO_000300: 1.131e1

FS
type: SiteQuality
SIO_000300: 5.41e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.08e-1

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9569
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5702
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2281
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.534324839031468e-5
allele num: 66162
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

DP
type: SiteQuality
SIO_000300: 1.973077e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.39e-1

QD
type: SiteQuality
SIO_000300: 1.4e1

FS
type: SiteQuality
SIO_000300: 5.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

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

GenotypeQuality
all individuals: 118
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37334
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.81312703976792e-4
allele num: 66184
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.936858415649816e-4
allele num: 10326
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.062e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

DP
type: SiteQuality
SIO_000300: 1.973451e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.173e1

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37476
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2288
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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: 2
allele frequency: 3.019141356198297e-5
allele num: 66244
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

DP
type: SiteQuality
SIO_000300: 1.972716e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.236e0

VQSLOD
type: SiteQuality
SIO_000300: -2.203e-1

FS
type: SiteQuality
SIO_000300: 8.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

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

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

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2288
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5683
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 0
allele frequency: 0.0e0
allele num: 66246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.578e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.973112e6

QD
type: SiteQuality
SIO_000300: 1.252e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37509
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5683
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 600
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.323015735777278e-4
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.252e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 1.973112e6

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

FS
type: SiteQuality
SIO_000300: 2.578e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9599
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5677
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1215
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.018321209743141e-5
allele num: 66262
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.94e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 1.972628e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 1218
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2301
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9629
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

DP
type: SiteQuality
SIO_000300: 1.975355e6

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 1.739e1

MQ
type: SiteQuality
SIO_000300: 5.988e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.139e0

GenotypeQuality
all individuals: 9630
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2298
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.975347e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.141e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.802e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.229e0

QD
type: SiteQuality
SIO_000300: 2.196e1

MQ
type: SiteQuality
SIO_000300: 5.929e1

FS
type: SiteQuality
SIO_000300: 5.625e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

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

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

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

GenotypeQuality
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5675
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2301
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
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: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.975533e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.459e0

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.571e0

QD
type: SiteQuality
SIO_000300: 9.85e0

FS
type: SiteQuality
SIO_000300: 3.969e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 5676
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9638
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 37647
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.394e0

MQRankSum
type: SiteQuality
SIO_000300: -7.05e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.525e0

DP
type: SiteQuality
SIO_000300: 1.975585e6

FS
type: SiteQuality
SIO_000300: 5.291e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 5.22e-1

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

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

GenotypeQuality
all individuals: 9635
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5676
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

FS
type: SiteQuality
SIO_000300: 8.311999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

DP
type: SiteQuality
SIO_000300: 1.975883e6

VQSLOD
type: SiteQuality
SIO_000300: 2.16e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2518
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9635
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2304
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00960062599693e-5
allele num: 66454
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.976197e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.893e0

MQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5680
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

South Asian
type: Population
allele count: 37
allele frequency: 2.242424242424242e-3
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.283e1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.848e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.19e0

DP
type: SiteQuality
SIO_000300: 1.977485e6

GenotypeQuality
all individuals: 544
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37746
bin: 6.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2518
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5679
bin: 9.75e1
variant carriers: 407

GenotypeQuality
all individuals: 9644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 30
allele frequency: 2.593809441466367e-3
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.253858024691358e-3
allele num: 10368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 355
allele frequency: 5.338827563389178e-3
allele num: 66494
num of homozygotes: 1

South Asian
type: Population
allele count: 4
allele frequency: 2.424242424242424e-4
allele num: 16500
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.444444444444444e-3
allele num: 900
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.985843e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.309e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.58e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.971e1

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

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

GenotypeQuality
all individuals: 2317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2539
bin: 7.25e1
variant carriers: 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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.022827754218172e-5
allele num: 66498
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: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.928268414963363e-4
allele num: 10372
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.75e-1

DP
type: SiteQuality
SIO_000300: 1.925955e6

QD
type: SiteQuality
SIO_000300: 1.156e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 5.53e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5299
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 38000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.014675808973896e-5
allele num: 66504
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: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.867e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

DP
type: SiteQuality
SIO_000300: 1.92522e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

GenotypeQuality
all individuals: 2541
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.924671e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.806e0

VQSLOD
type: SiteQuality
SIO_000300: 6.51e-1

FS
type: SiteQuality
SIO_000300: 2.019e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 202
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38039
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9700
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.601e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 1.836e0

DP
type: SiteQuality
SIO_000300: 1.924639e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e0

GenotypeQuality
all individuals: 37996
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2542
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9699
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1223
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.242e1

FS
type: SiteQuality
SIO_000300: 4.891e0

DP
type: SiteQuality
SIO_000300: 1.924132e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.266e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9684
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
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: 6614
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.73e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

DP
type: SiteQuality
SIO_000300: 1.923867e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5291
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 2294
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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: 11562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.431e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.971e0

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.949e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e0

DP
type: SiteQuality
SIO_000300: 1.922654e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 9.92e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

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

GenotypeQuality
all individuals: 545
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9626
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.92189e6

FS
type: SiteQuality
SIO_000300: 2.928e0

QD
type: SiteQuality
SIO_000300: 1.421e1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.237e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

GenotypeQuality
all individuals: 37945
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5285
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 594
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.203e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.312e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.681e0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.676e0

QD
type: SiteQuality
SIO_000300: 3.6e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.920686e6

GenotypeQuality
all individuals: 2274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9595
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5278
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.14e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 1.92002e6

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
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: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.664e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

DP
type: SiteQuality
SIO_000300: 1.919046e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

QD
type: SiteQuality
SIO_000300: 1.666e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 6.84e0

MQRankSum
type: SiteQuality
SIO_000300: -7.28e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 5273
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2263
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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: 11564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.918733e6

MQRankSum
type: SiteQuality
SIO_000300: -5.23e-1

QD
type: SiteQuality
SIO_000300: 1.519e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.162e0

FS
type: SiteQuality
SIO_000300: 7.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-3

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

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

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

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.101281269066504e-5
allele num: 16390
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.497e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 1.545e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.918656e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 1.265e0

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9563
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variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.104260774020266e-5
allele num: 16382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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: 900
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.217e0

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.65e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 4.038e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.918181e6

QD
type: SiteQuality
SIO_000300: 1.486e1

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 8.75e1
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

DP
type: SiteQuality
SIO_000300: 1.917674e6

FS
type: SiteQuality
SIO_000300: 3.053e0

QD
type: SiteQuality
SIO_000300: 1.524e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.199e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.905e1

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.25e1
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: 10384
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.133464180569185e-5
allele num: 16304
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.445e0

FS
type: SiteQuality
SIO_000300: 1.2016e1

DP
type: SiteQuality
SIO_000300: 1.915589e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

QD
type: SiteQuality
SIO_000300: 1.405e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.488e0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.22684333210649e-4
allele num: 16302
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 2.691e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.065e0

VQSLOD
type: SiteQuality
SIO_000300: 9.75e-1

DP
type: SiteQuality
SIO_000300: 1.915254e6

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.52e-1

GenotypeQuality
all individuals: 5250
bin: 9.75e1
variant carriers: 13

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

GenotypeQuality
all individuals: 138
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
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GenotypeQuality
all individuals: 2448
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variant carriers: 0

GenotypeQuality
all individuals: 1174
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variant carriers: 0

GenotypeQuality
all individuals: 585
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variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 8.75e1
variant carriers: 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: 894
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.955946076071257e-4
allele num: 66464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.911495e6

QD
type: SiteQuality
SIO_000300: 1.4e1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

GenotypeQuality
all individuals: 649
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9454
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variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.526040098741646e-5
allele num: 66436
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.342e1

DP
type: SiteQuality
SIO_000300: 1.908019e6

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 7.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505434618974498e-5
allele num: 66426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.856e0

MQRankSum
type: SiteQuality
SIO_000300: -2.139e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.002e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.26e1

MQ
type: SiteQuality
SIO_000300: 5.929e1

VQSLOD
type: SiteQuality
SIO_000300: -1.582e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

DP
type: SiteQuality
SIO_000300: 1.907135e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 5237
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GenotypeQuality
all individuals: 2198
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GenotypeQuality
all individuals: 527
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GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 2412
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 10382
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.90408e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

QD
type: SiteQuality
SIO_000300: 1.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.02e-1

FS
type: SiteQuality
SIO_000300: 2.846e0

VQSLOD
type: SiteQuality
SIO_000300: -1.404e-1

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

GenotypeQuality
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GenotypeQuality
all individuals: 200
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GenotypeQuality
all individuals: 895
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GenotypeQuality
all individuals: 2404
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GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 524
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01313727853441e-5
allele num: 66376
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: 10386
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.454e1

FS
type: SiteQuality
SIO_000300: 3.248e0

MQ
type: SiteQuality
SIO_000300: 6.032e1

DP
type: SiteQuality
SIO_000300: 1.902258e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.91e-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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bin: 6.25e1
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GenotypeQuality
all individuals: 5780
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variant carriers: 2707

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 98
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variant carriers: 2

GenotypeQuality
all individuals: 9224
bin: 6.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1738
allele frequency: 2.623158657329147e-2
allele num: 66256
num of homozygotes: 27

South Asian
type: Population
allele count: 653
allele frequency: 4.175191815856778e-2
allele num: 15640
num of homozygotes: 21

European (Finnish)
type: Population
allele count: 221
allele frequency: 3.341397036589053e-2
allele num: 6614
num of homozygotes: 3

Latino
type: Population
allele count: 84
allele frequency: 7.270209451272287e-3
allele num: 11554
num of homozygotes: 1

Other
type: Population
allele count: 26
allele frequency: 2.927927927927928e-2
allele num: 888
num of homozygotes: 1

African
type: Population
allele count: 40
allele frequency: 3.853564547206166e-3
allele num: 10380
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.257116408238834e-4
allele num: 8642
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.721e0

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.905353e6

QD
type: SiteQuality
SIO_000300: 1.53e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 164
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38017
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3183
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511715797430083e-5
allele num: 66150
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

DP
type: SiteQuality
SIO_000300: 1.774261e6

MQRankSum
type: SiteQuality
SIO_000300: -8.59e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

FS
type: SiteQuality
SIO_000300: 1.718e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

GenotypeQuality
all individuals: 38008
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3181
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2452
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15274
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.05052185751021e-5
allele num: 66110
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 2.454e0

QD
type: SiteQuality
SIO_000300: 1.29e1

DP
type: SiteQuality
SIO_000300: 1.770698e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
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variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14558
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517819197377208e-5
allele num: 65884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.411e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.354e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.872e0

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

FS
type: SiteQuality
SIO_000300: 9.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

DP
type: SiteQuality
SIO_000300: 1.747821e6

GenotypeQuality
all individuals: 99
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2517
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3169
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 462
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1138
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37099
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
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: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.518833535844471e-4
allele num: 65840
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: 14484
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.09e-1

FS
type: SiteQuality
SIO_000300: 4.042e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.747615e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 1.264e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.382e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

GenotypeQuality
all individuals: 2854
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36723
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.978088861838101e-4
allele num: 65720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14118
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 1.1e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

DP
type: SiteQuality
SIO_000300: 1.737949e6

GenotypeQuality
all individuals: 507
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36617
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14006
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65660
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 1.562e0

DP
type: SiteQuality
SIO_000300: 1.735517e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.203e0

MQ
type: SiteQuality
SIO_000300: 5.803e1

QD
type: SiteQuality
SIO_000300: 4.34e0

GenotypeQuality
all individuals: 9239
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3146
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36259
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 3.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529472943623627e-5
allele num: 65382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13276
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.766e0

FS
type: SiteQuality
SIO_000300: 7.24e-1

QD
type: SiteQuality
SIO_000300: 1.864e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.53e-1

DP
type: SiteQuality
SIO_000300: 1.723852e6

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

GenotypeQuality
all individuals: 36257
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3147
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
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variant carriers: 0

GenotypeQuality
all individuals: 2161
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65336
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.904162633107454e-4
allele num: 10330
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.91e-1

QD
type: SiteQuality
SIO_000300: 1.24e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

FS
type: SiteQuality
SIO_000300: 3.566e0

VQSLOD
type: SiteQuality
SIO_000300: 6.65e-1

DP
type: SiteQuality
SIO_000300: 1.722566e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

GenotypeQuality
all individuals: 427
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3146
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65210
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12742
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.82e0

QD
type: SiteQuality
SIO_000300: 1.275e1

FS
type: SiteQuality
SIO_000300: 1.8454e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.587e0

VQSLOD
type: SiteQuality
SIO_000300: -3.379e0

DP
type: SiteQuality
SIO_000300: 1.719773e6

GenotypeQuality
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2967
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3142
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535815210713847e-5
allele num: 65112
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.717124e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.575e0

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 2.9e0

VQSLOD
type: SiteQuality
SIO_000300: -3.239e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeQuality
all individuals: 2960
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2144
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.201923076923077e-3
allele num: 832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64944
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12094
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.713527e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.052e0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

GenotypeQuality
all individuals: 2139
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2863
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 486
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540499738115044e-5
allele num: 64914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.688e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.579e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
SIO_000300: 1.712818e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.045e0

QD
type: SiteQuality
SIO_000300: 1.46e1

FS
type: SiteQuality
SIO_000300: 6.813e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 9186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35983
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3135
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 721
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541354542371836e-5
allele num: 64878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11898
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.712218e6

FS
type: SiteQuality
SIO_000300: 4.563e0

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

GenotypeQuality
all individuals: 560
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3140
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 487
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2137
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541782300339192e-5
allele num: 64860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11774
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.684e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.257e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

FS
type: SiteQuality
SIO_000300: 1.749e0

DP
type: SiteQuality
SIO_000300: 1.711535e6

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
all individuals: 151
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2849
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11766
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.72762645914397e-5
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64846
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.710958e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.298e1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.905e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 36036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2840
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3111
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543352779578356e-5
allele num: 64794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.14e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

DP
type: SiteQuality
SIO_000300: 1.708367e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.341e0

FS
type: SiteQuality
SIO_000300: 8.462e0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

GenotypeQuality
all individuals: 2330
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1109
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3111
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36036
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9163
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

FS
type: SiteQuality
SIO_000300: 8.462e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.341e0

DP
type: SiteQuality
SIO_000300: 1.708367e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.223e1

GenotypeQuality
all individuals: 408
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 378
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
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variant carriers: 0

GenotypeQuality
all individuals: 479
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variant carriers: 0

GenotypeQuality
all individuals: 9156
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 9.75e1
variant carriers: 65

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

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.51285930408472e-3
allele num: 6610
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: 4
allele frequency: 3.899395593682979e-4
allele num: 10258
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 8.658008658008658e-4
allele num: 11550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.606429192006951e-4
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 39
allele frequency: 6.018704280996327e-4
allele num: 64798
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.642e0

FS
type: SiteQuality
SIO_000300: 5.2e-1

DP
type: SiteQuality
SIO_000300: 1.708577e6

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

VQSLOD
type: SiteQuality
SIO_000300: 3.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

GenotypeQuality
all individuals: 459
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2114
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
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variant carriers: 0

GenotypeQuality
all individuals: 69
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variant carriers: 0

GenotypeQuality
all individuals: 35946
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.738223535546671e-4
allele num: 11506
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

DP
type: SiteQuality
SIO_000300: 1.704471e6

FS
type: SiteQuality
SIO_000300: 2.169e0

QD
type: SiteQuality
SIO_000300: 1.468e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

GenotypeQuality
all individuals: 312
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2315
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variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.769441187964049e-5
allele num: 10236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64792
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.704625e6

FS
type: SiteQuality
SIO_000300: 1.293e0

MQ
type: SiteQuality
SIO_000300: 5.795e1

VQSLOD
type: SiteQuality
SIO_000300: -9.802e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.47e-1

GenotypeQuality
all individuals: 2317
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3099
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3054
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 481
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variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9123
bin: 6.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542924149848794e-5
allele num: 64812
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: 10240
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

MQ
type: SiteQuality
SIO_000300: 5.838e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 8.24e-1

DP
type: SiteQuality
SIO_000300: 1.704424e6

QD
type: SiteQuality
SIO_000300: 1.214e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.799e0

GenotypeQuality
all individuals: 116
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3052
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1091
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35818
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.771350400625366e-5
allele num: 10234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11644
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.704642e6

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-2

QD
type: SiteQuality
SIO_000300: 1.658e1

MQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.783e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.613e0

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 310
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9059
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2085
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.969667126255663e-4
allele num: 10154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.273283669747458e-5
allele num: 64702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11708
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.19e-1

FS
type: SiteQuality
SIO_000300: 5.0367e1

MQ
type: SiteQuality
SIO_000300: 5.682e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.973e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e0

VQSLOD
type: SiteQuality
SIO_000300: -1.745e1

DP
type: SiteQuality
SIO_000300: 1.70877e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.14e0

QD
type: SiteQuality
SIO_000300: 7.3e-1

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3212
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542305438168975e-5
allele num: 64838
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11972
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.912e1

VQSLOD
type: SiteQuality
SIO_000300: -1.152e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 5.869e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.701e0

DP
type: SiteQuality
SIO_000300: 1.705965e6

MQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

QD
type: SiteQuality
SIO_000300: 1.654e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.94e-1

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 189
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36072
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9149
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.934846409704559e-4
allele num: 10222
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11990
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.31e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-1

DP
type: SiteQuality
SIO_000300: 1.705926e6

GenotypeQuality
all individuals: 2322
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3016
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 9139
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.348582362149939e-4
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12064
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.70633e6

GenotypeQuality
all individuals: 153
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 234
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.896399241945672e-5
allele num: 12664
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.708588e6

MQ
type: SiteQuality
SIO_000300: 5.863e1

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -1.389e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.588e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
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variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
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variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9118
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64934
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 1.709602e6

VQSLOD
type: SiteQuality
SIO_000300: -2.042e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

FS
type: SiteQuality
SIO_000300: 1.916e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

QD
type: SiteQuality
SIO_000300: 7.67e0

GenotypeQuality
all individuals: 9165
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3005
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 620
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 6.105006105006105e-4
allele num: 13104
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.714716e6

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.344e1